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rs121908988

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908988(A;G)
Make rs121908988(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position151568801
GenePRKAG2
is asnp
is mentioned by
dbSNPrs121908988
ebirs121908988
HLIrs121908988
Exacrs121908988
Varsomers121908988
Maprs121908988
PheGenIrs121908988
hapmaprs121908988
1000 genomesrs121908988
hgdprs121908988
ensemblrs121908988
gopubmedrs121908988
geneviewrs121908988
scholarrs121908988
googlers121908988
pharmgkbrs121908988
gwascentralrs121908988
openSNPrs121908988
23andMers121908988
23andMe allrs121908988
SNP Nexus

SNPshotrs121908988
SNPdbers121908988
MSV3drs121908988
GWAS Ctlgrs121908988
Max Magnitude0
OMIM602743
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908988(G;G)
Alt rs121908988(G;G)
Reference Rs121908988(A;A)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 6
Variation info
Gene PRKAG2
CLNDBN Familial hypertrophic cardiomyopathy 6
Reversed 1
HGVS NC_000007.13:g.151265887T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007250.3,