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rs267606908

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 7 Hypertrophic Cardiomyopathy
Make rs267606908(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23424112
GeneMYH7
is asnp
is mentioned by
dbSNPrs267606908
dbSNP (classic)rs267606908
ClinGenrs267606908
ebirs267606908
HLIrs267606908
Exacrs267606908
Gnomadrs267606908
Varsomers267606908
LitVarrs267606908
Maprs267606908
PheGenIrs267606908
Biobankrs267606908
1000 genomesrs267606908
hgdprs267606908
ensemblrs267606908
geneviewrs267606908
scholarrs267606908
googlers267606908
pharmgkbrs267606908
gwascentralrs267606908
openSNPrs267606908
23andMers267606908
SNPshotrs267606908
SNPdbers267606908
MSV3drs267606908
GWAS Ctlgrs267606908
Max Magnitude7
ClinVar
Risk rs267606908(G;G)
Alt rs267606908(G;G)
Reference Rs267606908(A;A)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Familial hypertrophic cardiomyopathy 1 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23893321T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015185.27, RCV000035817.3, RCV000158569.3, RCV000469895.1,