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rs28938173

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3 Familial Hypertrophic Cardiomyopathy
(A;C) 3 Familial Hypertrophic Cardiomyopathy
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position151568750
GenePRKAG2
is asnp
is mentioned by
dbSNPrs28938173
ebirs28938173
HLIrs28938173
Exacrs28938173
Varsomers28938173
Maprs28938173
PheGenIrs28938173
hapmaprs28938173
1000 genomesrs28938173
hgdprs28938173
ensemblrs28938173
gopubmedrs28938173
geneviewrs28938173
scholarrs28938173
googlers28938173
pharmgkbrs28938173
gwascentralrs28938173
openSNPrs28938173
23andMers28938173
23andMe allrs28938173
SNP Nexus

SNPshotrs28938173
SNPdbers28938173
MSV3drs28938173
GWAS Ctlgrs28938173
Max Magnitude3
Familial hypertrophic cardiomyopathy

see also OMIM 602743.0004

OMIM602743
DescCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME
Variant0004
Relatedalso


ClinVar
Risk rs28938173(A;A)
Alt rs28938173(A;A)
Reference rs28938173(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 6 Primary familial hypertrophic cardiomyopathy
Variation info
Gene PRKAG2
CLNDBN Familial hypertrophic cardiomyopathy 6 Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000007.13:g.151265836G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007252.5, RCV000211739.1,