These seem interesting, but have not been flagged as clearly Good or Bad
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Magnitude: 4
Female
Female.
Magnitude: 2.5
more stimulated by coffee
You appear to have a common genotype in the gene CYP1A2 which metabolizes coffee more slowly than some other forms. The same amount of caffeine will tend to have more stimulating effect on slow metabolizers than on fast metabolizers. Ciprofloxacin is also metabolized by CYP1A2, but is unclear if your genotype should influence its effect.
Magnitude: 2.5
Blue eyes
thumb Heterozygous for what calls blue eye color haplotype #1. It seems 'blue', might be overstating it. In the eye color research community, there seems to be a distinction between the dark brown eyes typical for asian and african ancestry, and 'blue' for lighter eyes found in europeans. Please update this page with self reports. Email close up eye photos to info@snpedia.com.
Magnitude: 2.5
Blue eyes
heterozygous for what calls blue eye color haplotype #3. Please self report higher quality images of gs260 to info@snpedia.com
mixed African/European ancestry possible This G is not found in European populations. Suggests at least half ancestry with African or Asian populations.
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This SNP influences skin pigmentation. The allele, A111T, rs1426654(A), indicates light-skinned european ancestry. It appears as if this SNP is a relatively new one in human evolution; one estimate is that the rs1426654(A) allele, in other words, light skin pigmentation, spread through the European population around 6,000 - 12,000 years ago. Prior to that, 'European ancestors' were most likely relatively brown-skinned. Another study () has concluded that almost individuals carrying the A111T variant can trace ancestry back to a single person who most likely lived at least 10,000 years ago. This SNP is one of three from the SLC24A5 gene that can be analyzed to categorize the ancestry of a person as either European, African, or Asian, based on a 2009 study. The 3 SNPs are: * rs1426654 * rs25...
significantly higher anxiety levels after moderate caffeine consumption
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Variation at this SNP, rs5751876, also referred to as 1976C>T or 1976T>C, appears to influence how an individual responds to moderate levels (150mg) of caffeine. T/T carriers displaying significantly increased subjective levels of anxiety after consumption. However a PharmGKB variant annotation suggests it is (C;C) genotypes who are more sensitive to caffeine. rs5751876 is not associated with how much coffee one drinks, though, nor with risk for Parkinson's disease, based on a study of 1,200 subjects. 'rs2298383 shows functional potential based on in silico analyses and might therefore represent the true underlying causal variant'
warfarin sensitivity (~2.5 mg/day)
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rs8050894, is located on chromosome 16 in the gene VKORC1. VKORC1 is the primary target of the drug warfarin (Coumadin), a commonly used oral anticoagulant. rs8050894 is one of several polymorphisms found in VKORC1 that is associated with specific warfarin doses (). Other polymorphisms in VKORC1 (rs7196161, rs9923231, rs9934438, rs2359612) are equally predictive of warfarin dose requirement in both European and Asian-descent individuals. Other polymorphisms found in the gene cytochrome P450 2C9 (CYP2C9) influence the metabolism of warfarin and have a smaller effect on warfarin dose. These polymorphisms are rs1799853 (CYP2C9*2) and rs1057910 (CYP2C9*3). In several hundred Europeans, no association was found between rs8050894 and risk for ischemic stroke. Genetic-based dosing in orthopedic p...
Magnitude: 2
O blood group
This genoset defines one of the ABO blood group types, that of type O blood. It is based on the status of the rs8176719 SNP, with the O type predicted by the rs8176719(-;-) genotype.
Magnitude: 2
CYP2D6*41
CYP2D6*41 decreased metabolism
Magnitude: 2
You might have two short form 5-HTTLPR.
You might have two short-form 5-HTTLPR (serotonin-transporter-linked polymorphic region). Variations in the region have been extensively investigated in connection with neuropsychiatric disorders. Identification of tag haplotypes for 5HTTLPR for different genome-wide SNP platforms
increased risk for heavy alcohol consumption
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http://www.scientificblogging.com/news_releases/comorbidity_ghrelin_hunger_hormone_implicated_in_alcohol_dependence Jörgen Engel, professor of pharmacology at the Sahlgrenska Academy, University of Gothenburg For this research, scientists recruited 417 Spanish individuals from the general population (n=279) as well as heavy drinkers (n=138) admitted to a hospital for treatment. The study sample – comprised of abstainers, moderate and heavy alcohol drinkers – was then examined for single nucleotide polymorphisms (SNPs) in the pro-ghrelin and growth hormone secretagogue receptors (GHS-R1A) (GHSR) gene. Findings showed that SNP rs2232165 of the GHS-R1A gene was associated with heavy alcohol consumption (and therefore presumably alcohol dependence). SNP rs2948694 of the same gene as well as ha...
increased risk for chorionic plate inflammation
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rs1554973 is a SNP near the toll-like receptor 4 TLR4 gene. A study of 109 pregnant women focusing on TLR4 SNPs associated with chorionic plate inflammation concluded that rs1554973 was associated with increased risk when present in the fetal genome. The risk allele's increased odds ratio for clinically significant inflammation was 4.95 (CI: 3.0-5.6, p = .005). No evidence of major effects in several Toll-like receptor gene polymorphisms in rheumatoid arthritis. Traffic-related air pollution, oxidative stress genes, and asthma (ECHRS). Sequence variants in the TLR4 and TLR6-1-10 genes and prostate cancer risk. Results based on pooled analysis from three independent studies. Role of polymorphic variants as genetic modulators of infection in neonatal sepsis. Interaction between interleukin-1...
higher warfarin dosing
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rs2108622 is a SNP in the cytochrome P450, family 4, subfamily F, polypeptide 2 CYP4F2 gene. In the males rs2108622(G) was significantly higher in cerebral infarction patients (P = 0.025) A study of Italian patients concluded that rs2108622(T;T) patients require 5.49 mg/day of warfarin versus 2.93 mg/day for (C;C) patients. Analysis of variance indicates that about 7% of mean weekly warfarin dose variance is explained by CYP4F2 genotype. A study of 370 Brazilian ('admixed') patients concludes that prospective CYP4F2 genotyping is of little value to these patients, presumably due to ethnic-based differences. [PharmGKB:Curated Risk or phenotype-associated allele: no allelic association. Phenotype: Improved pharmacogenetic algorithm-based warfarin dosing. Study size: 370. Study population/et...
increased anxiety in response to caffeine associated with increased anxiety in response to caffeine
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Variation at this SNP, rs2298383, appears to influence how an individual responds to moderate levels (150mg) of caffeine. [PharmGKB:Curated Risk or phenotype-associated allele: rs2298383 T allele. Phenotype: Carriers of 1 or 2 copies of the T allele for rs2298383 showed increased risk of any (OR = 2.23, CI 1.03-5.07, p = 0.03) or gastrointestinal-specific (OR = 2.65, CI = 0.8-11.35, p = 0.09) adverse events. Study size: 309 RA patients, including 147 good MTX responders, 101 MTX inefficacy failures, and 61 adverse event (AE) MTX failures (e.g. gastrointestinal (n = 24), abnormal liver function tests (n = 20), haematological (n = 7), skin rashes (n = 6), and other (n = 17). Study population/ethnicity: Rheumatoid arthritis (RA) patients aged over 18 yrs, of White Caucasian ethnic origin, cl...
Magnitude: 2
Frequency: 31.0%
References:2
Frequency: 31.0%
References:2
possible risk for allergic asthma
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A large study of Caucasian children has identified this SNP in the TBX21 gene (and one other, rs16947078) as defining a haplotype associated with increased risk for allergic asthma. The odds ratio associated with rs11650354(T;T) homozygotes compared to rs11650354(C;C) homozygotes for allergic asthma is reported to be 8.13 (CI: 2.5-26.9). Heterozygotes may be at slightly higher risk. Polymorphisms in inflammation-related genes are associated with susceptibility to major depression and antidepressant response.
2.90 ng/mL lower Vitamin B6 blood concentration
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This is one of the SNPs reported by NutraHacker. Genetics and genomics of human aging. [PharmGKB:Non-Curated The C allele of this SNP is associated with lower blood concentration of vitamin B6 (Combined studies of Tuscan Italians ( inCHIANTI:N =1175 and Progetto Nutrizione study:N = 687) found 1.45 ng/mL lower vitamin B6 per copy of C (p = 8.3 x 10 (-18)))] [OMIM:?] [GWAS:Folate pathway vitamins]
More likely to think cilantro tastes like soap
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rs7107418 G allele is a proxy for rs72921001 A allele. rs72921001 A allele associated with lower chance of thinking cilantro tastes like soap. OR=.81 per A allele. http://blog.23andme.com/23andme-research/cilantro-love-hate-genetic-trait/
1.4x risk for LDH
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Lumbar disc herniation (LDH), a form of lumbar disc disease, is one of the most common musculoskeletal diseases. rs1676486, a SNP also known as c.4603C-->T in the COLL11A1 gene (one of 3 Type XI collagen genes), has been implicated in a study of ~800 Japanese patients as being associated with LDH. The risk allele in dbSNP orientation is (A), and the odds ratio associated with the allele is 1.42 (CI: 1.23 - 1.65). [PharmGKB:Curated In independent Japanese populations, the T allele was shown to be associated with Lumbar Disc Herniation.] [OMIM:COLLAGEN, TYPE XI, ALPHA-1; COL11A1]
straighter hair
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rs499697 the minor, derived allele is associated with curlier hair curl, 0.13 points per G. [GWAS:Common traits (Other)]
Fast Caffeine Metabolizer. Like the majority of people, caffeine is broken down faster in your liver, so it has less effect on you. Supposedly this decreases heart attack risk, although other studies show caffeine is generally good for the heart. Caffeine will be less effective at preventing Breast Cancer, Alzheimer's Disease, and Parkinson's disease. Caffeine will not make your breasts smaller.
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rs762551, also known as -164A>C or -163C>A, is a SNP encoding the CYP1A2*1F allele of the CYP1A2 gene. For historic reasons, the rs762551(C) allele is considered the wild-type, even though it is the rarer allele in most populations. The rs762551(A) allele is the 'fast metabolizer' allele known as CYP1A2*1F; the (C) allele is by comparison a slower metabolizer of certain substrates (including caffeine). In terms of genotypes, only rs762551(A;A) individuals are considered fast metabolizers. Individuals who are rs762551(A;C) heterozygotes or rs762551(C;C) homozygotes are both considered slow metabolizers. The CYP1A2 gene encodes a member of the cytochrome p450 family of proteins, which metabolize nutrients and drugs. One well known substrate of CYP1A2 is caffeine; individuals who are ca...
if male, won't go bald A female who is carrying one copy of an X chromosome snp which prevents baldness.
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rs6152, located in the first exon of the androgen receptor AR gene located on the X chromosome, is highly indicative of the ability to develop male pattern baldness. The risk allele is (G). However, although it appears to be necessary for baldness to develop, other (as yet unknown) variations must also be present for baldness to actually occur. , Since this SNP is on the X chromosome, and affects a trait primarily seen only in males, a single allele is shown as representing the individual's genotype. However, baldness may also occur in females, presumably only in females homozygous for rs6152(G;G) and also harboring the (as yet unknown) additional variations required for baldness. Note: The colorful and informative Figure 1 in shows the probability of varying degrees of baldness as men age...
straighter hair
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rs11803731, a SNP in the Trichohyalin gene (TCHH) gene, is estimated to account for 6% of the variance in hair morphology (ie hair curliness) based on a study of Australians of European ancestry. [OMIM:?] [GWAS:Hair morphology]
Homozygous for CYP2D6 variants (non-CYP2D6*1)
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rs1135840, also known as 4180G>C or S486T, is a SNP in the CYP2D6 gene. The wild type (normal) allele at this SNP is (G). The (C) variant indicates the presence of a non-wild type CYP2D6 variant, but it appears in many different variants so it can not be used to determine the presence of any particular variant. Please be careful when interpreting results for this SNP as it is in dbSNP and SNPedia in minus orientation where the risk allele is C, but test results are usually in plus orientation where the risk allele is G. This SNP has an ambiguous flip which can make this very confusing. Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. [PharmGKB:Curated Risk or phenot...
2.1x risk for Aspirin Induced Asthma. But possibly lower risk of intractible Grave's disease. Only tested in Japanese people. Might not be true for other races. May also be slightly protective against lupus (in Chinese people).
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rs4794067(C;C) and rs4794067(C;T) genotypes for the TBX21 gene are calculated to be at 2.15 fold higher risk (CI: 1.26-3.64) for aspirin-induced asthma (AIA) compared to rs4794067(T;T) homozygotes, based on a study of 72 patients vs 640 controls in a study of a Japanese population. Note that in this population, but perhaps not others, linkage disequilibrium exists between this SNP located upstream of the gene, rs4794067, and a common synonymous SNP located in the first exon, rs2074190, with a predictive accuracy of 92%. On the other hand, rs4794067(C;C) may greatly decrease the risk of lupus if rs17250932(C;C) is also present (at least in Chinese people). And those 2 SNPs also reduce the risk of intractable Graves' disease (at least in Japanese people).
higher scores on anxiety-related personality traits; greater placebo response One study of 25 people shows this genotype was a significant predictor of clinical placebo response, being associated with greater improvement in anxiety symptoms. This SNP has been linked to several psychiatric and/or behavioral phenomena, including: *higher scores on anxiety-related personality traits *obsessive compulsive disorder *panic disorder with a possible gender-dependent effect
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rs4570625, also known as G-703T, is a SNP in the tryptophan hydroxylase 2 TPH2 gene. This SNP has been linked to several psychiatric and/or behavioural phenomena, including: * rs4570625 and rs4565946 linked to the pathogenesis of early-onset obsessive compulsive disorder * rs4570625 and rs11178997 in TPH2's regulatory region display preferential transmission * rs4570625(G;G) homozygosity was a significant predictor of clinical placebo response, being associated with greater improvement in anxiety symptoms. g2b2mh is rs4570625(G;G) is a significant predictor of clinical placebo response? maybe not panic disorder with a possible gender-dependent effect Transmission disequilibrium of polymorphic variants in the tryptophan hydroxylase-2 gene in attention-deficit/hyperactivity disorder. Associa...
Magnitude: 1.8
1.7x increased risk for panic disorder
The haplotype A-A-G for SNPs rs3794808, rs140701 and rs4583306 has a 1.7x increased risk for panic disorder. However it seems quite common among the promethease reports.
Normal risk for Childhood Asthma.
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rs7216389, a SNP in the ORMDL3 gene on chromosome 17q21, was associated with susceptibility to childhood asthma in a study of ~1,000 British patients. The variation appears to be linked to altered levels of the ORMDL3 mRNA, which was shown in a cohort study of ~5,000 British and German patients to be correlated to childhood asthma. A large study of Scottish asthma patients replicated these results, finding that a single copy of the T allele conferred an odds ratio of 1.50 (CI: 1.24-1.81) and 2 copies conferred an odds ratio of 2.11 (CI: 1.71-2.61), respectively. [PharmGKB:Non-Curated GWAS Results: Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma (Initial Sample Size: 994 cases, 1,243 controls; Replication Sample Size: 2,320 cases, 3,301 controls; Ri...
Magnitude: 1.7
NAT2 slow metabolizer
Most non-Scandinavian Caucasians and approximately half of African-Americans are slow metabolizers. This variation is important because of its primary role in the deactivation of many chemicals in the body's environment, including those produced by caffeine and cigarettes as well as aromatic amine and hydrazine drugs used medicinally. In general, slow metabolizers have higher rates of certain types of cancer and are more susceptible to side effects from chemicals metabolized by NAT2. According to this source 6 snps determine NAT2 metabolism. The way their genotypes interact is very complex, which makes this one of the largest genosets in SNPedia. The SNPs are: *rs1208 *rs1041983 *rs1799929 *rs1799930 *rs1799931 *rs1801280
significantly higher sugar consumption?
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rs5400(T;T) carriers had a significantly higher intake of sugars blog discussion Food Preference
1.6x increased risk for breast cancer in females over 60
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rs2981745, also known as -93C>T, is a SNP in a gene known as Deleted in Malignant Brain Tumors 1 DMBT1. The (overly descriptive?) name refers to the hypothesis that this gene has a role as a tumor suppressor. A study of 1,195 BRCA1/2 mutation negative German breast cancer families and 1,466 unrelated German controls concluded that rs2981745(T) carriers over the age of 60 are at increased risk for breast cancer, with an odds ratio of 1.66 (CI: 1.21-2.29, p=0.0017). rs2981745 was also said to be tightly linked to rs11523871, which showed the same odds ratios in this study.
higher HDL cholesterol but lower risk for age-related macular degeneration
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rs5888 is a SNP in the scavenger receptor class B, member 1 SCARB1 gene. In a case-control study of two Caucasian populations totaling 2,498 patients, rs5888(C;T) heterozygotes had an increased odds ratio of 2.9 (CI: 1.6-5.3, p<0.002) for age-related macular degeneration (ARMD) based on a pooled analysis. Subgroup analysis indicated that the odds ratio for exudative forms of ARMD was even higher (3.6; CI: 1.7-7.6, p>0.0015) for rs5888(C;T) heterozygotes.
increased risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The G allele was associated with a decreased risk of schizophrenia.
Higher B12 levels in women
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From : We identified a strong association (p = 5.36 x 10(-17)) between rs492602 in the FUT2 gene and plasma vitamin B(12) levels in a genome-wide scan (n = 1,658) and an independent replication sample (n = 1,059) from the Nurses' Health Study. Women homozygous for the rs492602(C) allele (in dbSNP orientation) had higher B(12) levels. This allele is in strong linkage disequilibrium with the FUT2 nonsecretor variant encoding W143X, suggesting a plausible mechanism for altered B(12) absorption and plasma levels. [PharmGKB:Curated GWAS Results: Common variants of FUT2 are associated with plasma vitamin B12 levels (Initial Sample Size: 1,658 women; Replication Sample Size: 1,059 women; Risk Allele: rs492602-G). This variant is associated with Plasma level of vitamin B12.] [OMIM:FUCOSYLTRANSFER...
normal risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The G allele was associated with an increased risk of schizophrenia.
least likely to be able to smell asparagus metabolites in urine
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Asparagus anosmia research was performed by 23andMe and presented at the 2009 ASHG according to geneticfuture. Asparagus anosmia Asparagus Metabolite Detection [GWAS:Common traits (Other)]
increased risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The T allele was associated with an increased risk of schizophrenia. A network of dopaminergic gene variations implicated as risk factors for schizophrenia. Family based association study of pediatric bipolar disorder and the dopamine transporter gene (SLC6A3). Genome-wide and candidate gene association study of cigarette smoking behaviors. Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene. Two loci control tuberculin skin test reactivity in an area hyperendemic for tuberculosis.
Late-onset Type=2 diabetes
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omim 131240 In a study of 103 candidate genes for coronary artery disease and associated phenotypes in the French-Canadian founder population of the Saguenay Lac St-Jean region of Quebec, Pare et al. (2007) found that HDL cholesterol levels were associated with a lysine-to-asparagine substitution at codon 198 (K198N) of the EDN1 gene in a sex-specific manner. The minor allele T (Asn) of the K198N substitution (dbSNP rs5370) was associated with lower HDL cholesterol values. Women showed a strong association between dbSNP rs5370 and HDL cholesterol (P = 1.3 x 10(-5)), whereas in men no such significant association was identified (P = 0.14). 3x increase in the adjusted odds of being hypertensive of rs5370(T;T) homozygotes compared to (G;G) homozygotes (odds ratio 2.89, 9CI: 1.02 - 8.19). Afte...
weakly linked to familial mediterranean fever You're a carrier, but this snp seems not to have any obvious negative consequences.
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The symptoms of familial Mediterranean fever are caused by the person's own inflammatory response; it is not an infectious disease. The condition is more common among Turks, Sephardic Jews, and people of Arab and Armenian ancestry. 23andMe tests for SNPs in the MEFV gene that are associated with a recessive form of familial Mediterranean fever: * rs28940579, also known as V726A (risk allele G) * rs28940580, also known as M680I C>G (risk allele G) * rs28940578, also known as M694I (risk allele T) * rs3743930, also known as E148Q (risk allele G) * rs11466023, also known as P369S (risk allele A) * i4000406, also known as M694V (risk allele C) * i4000409, also known as A744S (risk allele A) * i4000403, also known as F479L (risk allele C) * i4000410, also known as R761H (risk allele T) * i40...
2.5x increased risk for chronic kidney disease in a small unreplicated study
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rs6495446, an intronic SNP in the MTHFS gene, was associated with increased risk for chronic kidney disease based on a study associated with the Framingham Heart Study of ~1,000 Caucasian individuals. The odds ratio rs6495446(C) allele was 1.24 (CI: 1.09-1.41, p=0.001).news 23andMe reports this same information with a different emphasis: each T allele lowers the odds of chronic kidney disease by 0.8 times.
some resistance to tuberculosis some resistance to tuberculosis
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The SNP rs4804803 is a variant (-336A>G) in the promoter region for the CD209 gene that results in altered CD209 transcription. It is associated with modified resistance to several infectious diseases, including viruses (Hepatitis C, HIV, dengue, SARS), and bacteria (Mycobacterium tuberculosis), as well as other disorders of varying etiology (ulcerative colitis). The CD209 gene encodes a transmembrane receptor found on the surface of dendritic cells and macrophages. The protein product of CD209, DC-SIGN, plays an important role within both the innate and adaptive immune systems. DC-SIGN's role differs depending on which cell type it resides. On macrophages, DC-SIGN is responsible for recognizing and binding to mannose-type carbohydrates, which are found in almost all pathogenic organism...
carrier Since this comes from omim, it's supposed to be a rare disorder, but HapMap shows that variation is common
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Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC. [OMIM:PEPTIDE TRANSPORTER PSF2 POLYMORPHISM]
1.3x higher risk for schizophrenia (among Han Chinese)
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rs2024513 is a SNP in the neurexin-1 NRXN1 gene on chromosome 2p16.3. Based on a case-control study of 700+ Han Chinese patients with schizophrenia, rs2024513(A) was associated with higher risk, at an odds ratio of 1.3 (CI: 1.07 - 1.56, p=0.006).
1.3x increased risk that pediatric inhaler use may make asthma worse
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rs1042713, also known as Arg16, G16R, and 16Arg>Gly, is a SNP in the adrenergic, beta-2-, surface receptor ADRB2 gene. The rs1042713(G) allele encodes the G/glycine form that is the more common one in most populations, while rs1042713(A) encodes the R/arginine residue at this position of the ADRB2 protein. A study of 1,182 young Scottish asthma patients (age, 3-22 years) concluded that rs1042713(A) alleles are significantly associated with 'exacerbations' of their condition, regardless of treatment regimens (odds ratio 1.30, CI: 1.09-1.55, p=0.003). This didn't hold true for patients using inhalers less than once per day; and it was particularly true for those receiving daily inhaled long- or short-acting beta(2)-agonist treatment (OR, 1.64, CI: 1.22-2.20, p=.001). This may therefore in...
1.3x increased risk for preeclampsia in most populations Note that this is relevant to the fetal genotype, not the maternal genotype
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rs2549782 is a SNP in the endoplasmic reticulum aminopeptidase 2 ERAP2 gene. A case-control study of 1103 Chilean maternal-fetal dyads and 1637 unpaired African American samples (836 maternal, 837 fetal) concluded that the fetal minor allele rs2549782(G) was associated with 1.3x increased risk (CI: 1.075-1.619) for preeclampsia in the African American population (p = 0.009), but not in the Chilean population.
1.3x higher risk for glioma development
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23andMe blog rs2736100 C 1.27 Glioma Lung cancer susceptibility locus at 5p15.33. Common genetic variants on 5p15.33 contribute to risk of lung adenocarcinoma in a Chinese population. Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility. Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study. Role of 5p15.33 (TERT-CLPTM1L), 6p21.33 and 15q25.1 (CHRNA5-CHRNA3) variation and lung cancer risk in never-smokers. Individuals susceptible to lung adenocarcinoma defined by combined HLA-DQA1 and TERT genotypes. New insights into susceptibility to glioma. Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium. Evaluatio...
1.2x higher risk for migraines
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rs2651899 is a SNP on ch 1p36.32 in the PRDM16 gene. A large GWAS study of over 5,000 patients with migraines and a meta-analysis concluded that this SNP was one of three influencing the condition, albeit with only slight risk increases on its own. The odds ratio for the slightly rarer rs2651899(G) allele was 1.11 (CI: 1.07 - 1.15, p = 3.8 x 10e-9). A 2013 study published by the American Headache Society reports significant influence of rs1835740, LRP1 rs11172113 and PRDM16 rs2651899 polymorphisms on migraine susceptibility in the Northern Indian population. Genome-wide-associated variants in migraine susceptibility: a replication study from North India. [GWAS:None]
Magnitude: 1.1
Frequency: 32.7%
References:8
Frequency: 32.7%
References:8
possibly unable to taste bitterness possibly unable to taste bitterness
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rs10246939 is one of three SNPs that form the main haplotypes behind the ability to perceive as bitter the taste of the compound phenylthiocarbamide (PTC) and similar molecules in foods (like cabbage and raw broccoli) or drinks (like coffee and dark beers). The rs10246939(C) allele, in the orientation shown in dbSNP, is the 'tasting' allele, and it is dominant to the 'non-tasting' allele rs10246939(T), so having one copy is enough to have the bitter tasting ability. If you are a 'taster', you're also likely to carry at least one rs713598(G) and one rs1726866(C) allele since, along with rs10246939(C), these three SNPs form the most common tasting haplotype. If you lack these alleles, you're quite likely (~80%) to be a non-taster of bitterness, meaning that foods that may taste bitter to oth...
possible unable to taste bitter 80% likely to be unable to taste bitter
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rs1726866 is one of three SNPs that form the main haplotypes behind the ability to perceive as bitter the taste of the compound phenylthiocarbamide (PTC) and similar molecules in foods (like cabbage and raw broccoli) or drinks (like coffee and dark beers). The rs1726866(C) allele is the 'tasting' allele, and it is dominant to the 'non-tasting' allele rs1726866(T), so having one copy is enough to have the bitter tasting ability. If you are a 'taster', you're also likely to carry at least one rs713598(G) and one rs10246939(C) allele since, along with rs1726866(C), these three SNPs form the most common tasting haplotype. If you lack these alleles, you're quite likely (~80%) to be a non-taster of bitterness, meaning that foods that may taste bitter to others taste far less bitter to you. (C;C)...
The (A;G) genotype averages 2.8 PIQ points higher than the (G;G), but averages 2.84 PIQ points lower than (A;A) genotype
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SNPs in the SNAP25 gene were initially linked to intelligence but have failed to replicate . While now suspect, the original work can be found in . The (A;A) genotype averaged 2.84 PIQ points higher than the (A;G) genotype, which averages 2.8 PIQ points higher than the (G;G) genotype (p=0.0002). Variance in this SNP may account for 3.4% of the phenotypic variance in PIQ. rs363050 is in close linkage with rs353016, with r2 = 0.98, such that the rs363050(A) allele typically is linked to the rs353016(T) allele. For SNPs rs363039 - rs363043 - rs353016, respectively, the haplotype C-T-T is most associated with higher intelligence in children, whereas the haplotype C-C-T is most associated in adults (SNPs oriented as in dbSNP). Measures of Intelligence
Magnitude: 1.1
Frequency: 100.0%
References:1
Frequency: 100.0%
References:1
Normal (higher) blood pressure. Almost all white people and a majority of non-white people have this normal version. But it isn't as good as the other rare mutant version which would have lowered blood pressure. Tested in Asians. They had an average blood pressure of 127.4/80.1 with this Allele.
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The minor (G) allele of SNP rs10495584 was associated with lower mean systolic and diastolic blood pressures in men (121.1 +/- 14.2 and 76.3 +/- 10.2 mm Hg vs. 127.4 +/- 15.2 and 80.1 +/- 10.5 mm Hg, P = 0.002 and 0.007, respectively), but not in women (P > 0.05), and remained significant after correction for numerous other factors. However, its effect may be caused by a nearby, tightly linked SNP, rs11524.
Normal C-Reactive Protein levels. Very slight (x1.05) increase in overall risk for cancers. This causes a median hsCRP Level of 1.88 mg/L in women. Strangely this was associated with a slightly higher overall cancer risk (in Finnish people).
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rs1892534 is a SNP that was originally associated with C-reactive protein levels, and given other findings that suggest C-reactive protein levels may be predictive of cancer risk, was thought to be linked to cancer risk. A large study pooling data from 3 Finnish studies totaling over 18,000 individuals concluded that while the rs1892534(A) allele was not likely to be causative (relative to cancer), it is associated with increased risk for cancer overall. The odds ratio for 1 or 2 such alleles was 1.05 (CI: 0.90 - 1.23) and 1.2 (CI: 1.01 - 1.42) overall. Two other CRP SNPs (rs1169300 and rs2464196) were specifically associated with increased lung cancer risk. CRP SNPs were not associated with colorectal, prostate or breast cancer risk. [PharmGKB:Curated GWAS Results: Loci Related to Metabo...
higher risk for Achilles tendinopathy?
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rs650108 is a SNP in the matrix metallopeptidase 3 MMP3 gene on ch 11. A relatively small study (~100 patients) found associations between risk for Achilles tendinopathy and SNPs in the MMP3 gene. For rs650108, the (A;A) genotype had an odds ratio of 4.9 (CI: 1.0 to 24.1, p = 0.043). [PharmGKB:Curated In a GWAS performed on 778 healthy Amish adults, this SNP was significantly associated with levels of circulating MMP1. Phenotype: associated with circulating MMP1 levels. Study size:778. Study population/ethnicity: healthy Amish adults. Significance metric(s): P value: GC content -corrected p = 1.06 x 10 (-20). Type of association: CO; GN.]
higher risk for Achilles tendinopathy?
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A study of 1418 African-American women and men from the Genetic Epidemiology Network of Arteriopathy study found a significant sex-specific interaction effect between rs679620, a SNP in the metallopeptidase 3 MMP3 gene and body mass index (BMI) in African-American women but not men (p = 0.0009). rs679620 appears to have a protective effect on diastolic blood pressure in women with high BMI, but surprisingly, it had the opposite effect on women with low BMI, resulting in higher diastolic BP. A relatively small study (~100 patients) found associations between risk for Achilles tendinopathy and SNPs in the MMP3 gene. For rs679620, the (G;G) genotype had an odds ratio of 2.5 (CI: 1.2 - 4.90, p = 0.010). An interaction resulting in increased risk for Achilles tendinopathy was also reported betw...
higher risk for Achilles tendinopathy?
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rs591058 is a SNP in the matrix metallopeptidase 3 MMP3 gene on ch 11. A relatively small study (~100 patients) found associations between risk for Achilles tendinopathy and SNPs in the MMP3 gene. For rs591058, the (C;C) genotype had an odds ratio of 2.3 (CI: 1.1 to 4.50, p = 0.023).
Magnitude: 1
Frequency: 20.4%
References:1
Frequency: 20.4%
References:1
reported to influence perception of pain
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rs6746030 is a SNP in the sodium channel Nav1.7 SCN9A gene. In five cohorts tested, totaling 1,277 individuals, the rarer rs6746030(A) allele was associated with increased pain (p=0.0001).
Higher serum levels of vitamin D
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Levels of 25-hydroxyvitamin D in familial longevity: the Leiden Longevity Study. Concluded that familial longevity was associated with a lower vitamin D levels and a lower frequency of the allelic variation in the CYP2R1 gene. Genome-wide association study of circulating vitamin D levels. This SNP is part of CYP2R1, which encodes a key C-25 hydroxylase that converts vitamin D3 to an active vitamin D receptor ligand. This SNP, along with rs2282679, rs3829251, and rs6599638 accounted for 2.8% of the variance in circulating vitamin D levels. [GWAS:Vitamin D levels]
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Heterozygotes for SNP rs11362, located in the DEFB1 gene, are reported to be at increased risk for colonic Crohn's disease - but not the ileal or ileocolonic forms of the disease - based on a study of 190 Caucasians. The odds ratio is 2.393 (CI: 1.18-4.87, p=0.02). G-20A rs11362(A;G) 2.4x risk colonic and ileocolonic Crohn's disease but no association was detected for the ileal localization
normal risk of developing Parkinson's Disease
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People with two copies of the T allele at rs6812193 appear to have a slightly lower risk of Parkinson's disease. The same researchers identified another risk allele for Parkinson's disease at rs11868035. plos [GWAS:Parkinson's disease]
MAPT H1/H1 diplotype
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replicates the association between rs1800547 and late-onset Parkinson's disease, calculating an odds ratio of 0.77 (CI: 0.66 - 0.88, p=3x10e-4) for the rarer rs1800547(G) allele among 1445 patients from northern Spain. significantly associated with parkinson's disease [OMIM:MICROTUBULE-ASSOCIATED PROTEIN TAU; MAPT]
Possibly more 'Insistence on Sameness' on ADI-R test.Possibly increased FTND nicotine dependence.[http://www.ncbi.nlm.nih.gov/pubmed/22309839?dopt=Abstract
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rs167771 was significantly associated with autism spectrum disorder in a study of 144 patients. G allele associated with increased extra-pyramidal symptom risk as a result of risperidone treatment in a study of 321 psychiatric inpatients (81 presenting with EPS and 189 without) [PharmGKB:Curated Risk or phenotype-associated allele: G. Phenotype: The G variant of rs167771 was associated with increased risk for extrapyramidal symptoms in psychiatric patients receiving risperidone. Study size: 132. Study population/ethnicity: Patients with Schizophrenia or Bipolar disorder receiving antipsychotics; Caucasians; Spain; Catalonia. Significance metric(s): OR = 3.3; p = 0.00013. Type of association: PD.]
normal risk of schizophrenia in limited study
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Associated with schizophrenia in a study of Croatians. Due to the limited number and diversity of the studied population, more study is needed to confirm any link. The T allele was associated with a decreased risk of schizophrenia.
Conduct disorder (CD) is one of the most prevalent childhood psychiatric conditions, and is associated with a number of serious concomitant and future problems. CD symptomatology is known to have a considerable genetic component, with heritability estimates in the range of 50%. Four SNPs reached genome-wide significance with CD symptom count, based on P < 5x10^-8 Two of these SNPs (rs16891867 and rs1861046) were in the gene C1QTNF7 (C1q and tumor necrosis factor-related protein 7). These SNPs were in high LD (r^2=0.97). The other top two SNPs meeting genome-wide significance were intergenic and located on chromosomes 11 and 13. Alleles A/G were found to be associated with CD symptom count or CD case status. [http://www.downstate.edu/hbnl/documents/2010-Dick-Genome-wideassociationstudyof...
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[GWAS:Conduct disorder (case status)]
possibly higher glaucoma risk? glaucoma risk likely to actually be based on nearby rs3825942
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rs1048661, also known as R141L, a SNP causing an amino acid change in the lysyl oxidase 1 LOXL1 gene, has been linked to exfoliation glaucoma. This form of glaucoma causes up to 10% of the cases of blindness in many countries, including the US. [Science DOI: 10.1126/science.1146554] From the abstract of this study: 'Approximately 25% of the general population is homozygous for the highest risk haplotype and their risk of suffering XFG (exfoliation glaucoma) is over 100 times that of those only carrying low-risk haplotypes.' The risk allele for this SNP is rs1048661(G), and it confers a estimated relative risk (by itself) of 3.04. The odds ratio is 2.46 (CI 1.91-3.16). [Note that the (G) allele is actually quite common in most European populations.] However, a meta-analysis published in 201...
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anxiety-related personality traits, ADHD, schizophrenia part of a three marker haplotype rs737865-rs4680-rs165599 epistasis between SNPs in COMT (rs2097603, Val158Met (rs4680), rs165599) and polymorphisms in other schizophrenia susceptibility genes popular in pubmed is associated with bipolar disorder and influences prefrontal aspects of verbal memory in bipolar patients and healthy controls. [PharmGKB:Curated In a study of 78 African American and 65 white patients diagnosed with schizophrenia or schizoaffective disorder, this SNP in the COMT gene was found to have significant associations with response to risperidone over 2-12 weeks in both African-American and white patients.] [OMIM:CATECHOL-O-METHYLTRANSFERASE; COMT]
Duffy-positive This genotype is associated with European populations and southwestern Native American populations.
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rs2814778 is within the DARC gene, which encodes the Duffy blood group antigen . This SNP shows an almost perfectly fixed difference in frequency between Europeans and those with African ancestry. (One exception appears to be a certain population of Czech gypsies, and certain non-Ashkenazi Jewish populations.) Additionally the Namibian San samples of the CEPH-HGDP are, uncharacteristically for Africans, all AA homozygotes for this SNP. The rs2814778 (G) allele is associated with African populations, while rs2814778 (A) is associated with European populations and southwestern Native American populations. rs2814778(G;G) protect against Plasmodium vivax malaria and predicts of white blood cell and neutrophil count 23andMe blog discussion Malaria Resistance (Duffy Antigen) [PharmGKB:Curated A...
Magnitude: 0.1
normal pain sensitivity
You probably experience typical sensitivity to pain according to See also gs232, gs234, and gs235
Magnitude: 0
one or more copies of a test CNV
you have one or more copies of the CNV discussed at . see also gs218 tested via at least rs16889859(-;-)