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rs121908991

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Familial hypertrophic cardiomyopathy (possible)
(G;G) 0 common in clinvar


Make rs121908991(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position151560610
GenePRKAG2
is asnp
is mentioned by
dbSNPrs121908991
ClinGenrs121908991
ebirs121908991
HLIrs121908991
Exacrs121908991
Varsomers121908991
Maprs121908991
PheGenIrs121908991
hapmaprs121908991
1000 genomesrs121908991
hgdprs121908991
ensemblrs121908991
gopubmedrs121908991
geneviewrs121908991
scholarrs121908991
googlers121908991
pharmgkbrs121908991
gwascentralrs121908991
openSNPrs121908991
23andMers121908991
23andMe allrs121908991
SNP Nexus

SNPshotrs121908991
SNPdbers121908991
MSV3drs121908991
GWAS Ctlgrs121908991
Max Magnitude6
The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].
OMIM602743
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121908991(A;A) rs121908991(T;T)
Alt rs121908991(A;A) rs121908991(T;T)
Reference Rs121908991(G;G)
Significance Pathogenic
Disease not specified Glycogen storage disease of heart Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene PRKAG2
CLNDBN not specified Glycogen storage disease of heart, lethal congenital Primary familial hypertrophic cardiomyopathy not provided
Reversed 1
HGVS NC_000007.13:g.151257696C>A; NC_000007.13:g.151257696C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000038921.2, RCV000007255.4, RCV000038920.2, RCV000159019.1,