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rs587776643

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;TTA) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs587776643(-;TAA)
Make rs587776643(TAA;TAA)
ReferenceGRCh38 38.1/142
Chromosome7
Position151572664
GenePRKAG2
is asnp
is mentioned by
dbSNPrs587776643
dbSNP (classic)rs587776643
ClinGenrs587776643
ebirs587776643
HLIrs587776643
Exacrs587776643
Gnomadrs587776643
Varsomers587776643
LitVarrs587776643
Maprs587776643
PheGenIrs587776643
Biobankrs587776643
1000 genomesrs587776643
hgdprs587776643
ensemblrs587776643
geneviewrs587776643
scholarrs587776643
googlers587776643
pharmgkbrs587776643
gwascentralrs587776643
openSNPrs587776643
23andMers587776643
SNPshotrs587776643
SNPdbers587776643
MSV3drs587776643
GWAS Ctlgrs587776643
Max Magnitude6.2
ClinVar
Risk rs587776643(TAA;TAA)
Alt rs587776643(TAA;TAA)
Reference Rs587776643(-;-)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 6
Variation info
Gene PRKAG2
CLNDBN Familial hypertrophic cardiomyopathy 6
Reversed 1
HGVS NC_000007.13:g.151269750_151269751insTAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000007251.3,