Changes since 2013-08-01 (44 days ago)

File: genome_Thejesh_GN.txt

Generated: 2013-09-14 18:37

Version: 0.1.158

Ethnicity: CEU

Notable

#1

rs11614913 (C;C)

changes (unchanged)
mag=3.0 freq=33.6% repute=Bad

23928854 A functional variant of pre-miRNA-196a2 confers risk for Behcet's disease but not for Vogt-Koyanagi-Harada syndrome or AAU in ankylosing spondylitis
#2

rs1799945 (C;G)

changes (unchanged)
mag=3.0 freq=35.6% repute=Bad


CLNDSDBID=NBK1440:C0392514:235200:35400008; CN034317:612635
CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT; MedGen:OMIM
CLNACC=SRCV000000020169.1; SRCV000000020170.1
CAF=0.9164; 0.08356
CLNSRC=GTR; OMIM Allelic Variant
Tags=PM;PMC;S3D;SLO;NSM;REF;INT;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
COMMON=1
VP=0x0503680808a050115051f130100
CLNSRCID=613609.GTR000219921; 613609.0002

#3

rs2981582 (C;T)

changes (unchanged)
mag=3.0 freq=41.6% repute=Bad

23912956 Associations with growth factor genes (FGF1, FGF2, PDGFB, FGFR2, NRG2, EGF, ERBB2) with breast cancer risk and survival: the Breast Cancer Health Disparities Study
#4

rs1333049 (C;G)

changes (unchanged)
mag=3.0 freq=50.4% repute=Bad

23933542 The 9p21 locus does not affect risk of coronary artery disease through induction of type 1 interferons
#5

rs1426654 (A;A)

changes (unchanged)
mag=2.7 freq=100.0%


CLNDSDBID=C2676042:113750
CLNDSDB=MedGen:OMIM
CLNACC=SRCV0000015521707.1
CAF=0.4775; 0.5225
Tags=PM;PMC;SLO;NSM;REF;ASP;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM;GCF
COMMON=1
VP=0x050168000a050115051f130101
CLNSIG=255

#6

rs1799971 (G;G)

changes (unchanged)
mag=2.6 freq=1.8% repute=Bad

23454283 Low frequency genetic variants in the -opioid receptor (OPRM1) affect risk for addiction to heroin and cocaine
ClinVar Reclassified - variant of unknown significance
#7

rs13266634 (C;T)

changes (unchanged)
mag=2.5 freq=38.9% repute=Bad


CLNDSDBID=C0011860:125853:44054006
CLNDSDB=MedGen:OMIM:SNOMED_CT
CLNACC=RCV000001055.1
CLNDBN=Diabetes mellitus type 2
CAF=0.7176; 0.2824
CLNSRC=OMIM Allelic Variant
Tags=PM;PMC;SLO;NSM;REF;ASP;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM;GCF
COMMON=1
Disease=Diabetes mellitus type 2
VP=0x050168000a0501150517130101
CLNSRCID=611145.0001

#8

rs1061170 (C;T)

changes (unchanged)
mag=2.5 freq=58.3% repute=Bad


CLNDSDBID=C1853147:610698; C0730295:126700:75376:312926005
CLNDSDB=MedGen:OMIM; MedGen:OMIM:Orphanet:SNOMED_CT
CLNACC=SRCV0000318294015.1; SRCV0000318295016.1
CAF=0.2778; 0.7222
Tags=PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;G5A;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;MTP;OM;GCF
COMMON=1
VP=0x050368000a0501170517130101
CLNSRCID=134370.0008; 134370.0008

23919682 Complement alternative pathway genetic variation and Dengue infection in the Thai population
#9

rs12979860 (C;T)

changes (unchanged)
mag=2.5 repute=Bad

23939236 Variation in IFNL4 genotype and response to interferon-based therapy of hepatitis C in HIV-positive patients with acute and chronic hepatitis C
23231085 IL28B polymorphisms predict response to therapy among chronic hepatitis C patients with HCV genotype 4
#10

rs2305089 (T;T)

changes (unchanged)
mag=2.2 freq=35.1% repute=Bad


Gene=T
Assembly=GRCh37.p510
GenomeBuild=37.35
dbSNPBuild=1378
Gene_s=T

Rare

#1

rs1109748 (A;A)

changes (create)
freq=0.0%

ClinVar
#2

rs1524107 (T;T)

changes (create)
freq=0.0%


Assembly=GRCh37.p10
GenomeBuild=37.15
Gene_s=IL6,MIR632
dbSNPBuild=1318

#3

rs2066992 (T;T)

changes (create)
freq=0.0%


Assembly=GRCh37.p10
GenomeBuild=37.15
Gene_s=IL6,MIR632
dbSNPBuild=1318

23415255 Association of Interleukin 6 gene polymorphisms with genetic susceptibilities to spastic tetraplegia in males: a case-control study
#4

rs28358278 (T;T)

changes (create)
freq=0.0%


Assembly=GRCh37.p10
GenomeBuild=37.15
Gene_s=SESN3
dbSNPBuild=1328

#5

rs2857284 (C;C)

changes (unchanged)
freq=0.0% repute=


Assembly=GRCh37.p10
GenomeBuild=37.15
Gene_s=METTL21D
dbSNPBuild=1328

#6

rs569108 (C;C)

changes (unchanged)
freq=0.0%


CLNACC=RCV000015930.1
CLNDBN=Atopic asthma, susceptibility to
CAF=0.8806; 0.1194
CLNSRC=OMIM Allelic Variant
Tags=RV;PM;PMC;SLO;NSM;REF;ASP;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM;GCF
COMMON=1
Disease=Atopic asthma
VP=0x050168000a0501150517110101
CLNSRCID=147138.0001
CLNHGVS=NC_000011.89:g.59863196804A>G

#7

rs1800796 (C;C)

changes (create)
freq=0.0%

23415255 Association of Interleukin 6 gene polymorphisms with genetic susceptibilities to spastic tetraplegia in males: a case-control study
24003533 Relationship between cytokine single nucleotide polymorphisms and sarcoidosis among Japanese subjects
#8

rs11931074 (T;T)

changes (create)
freq=0.9%

23962496 The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants
#9

rs9864370 (C;C)

new (create)
freq=0.9%

23502783 The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
#10

rs2070874 (T;T)

changes (create)
freq=1.8%

23924473 Association between the polymorphisms of interleukin-4, the interleukin-4 receptor gene and asthma
23964553 Relationship between polymorphisms in IL4 and asthma in Japanese women: the Kyushu Okinawa Maternal and Child Health Study