Have questions? Visit https://www.reddit.com/r/SNPedia

rs397516130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516130(C;C)
Make rs397516130(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23426033
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516130
ebirs397516130
HLIrs397516130
Exacrs397516130
Varsomers397516130
Maprs397516130
PheGenIrs397516130
hapmaprs397516130
1000 genomesrs397516130
hgdprs397516130
ensemblrs397516130
gopubmedrs397516130
geneviewrs397516130
scholarrs397516130
googlers397516130
pharmgkbrs397516130
gwascentralrs397516130
openSNPrs397516130
23andMers397516130
23andMe allrs397516130
SNP Nexus

SNPshotrs397516130
SNPdbers397516130
MSV3drs397516130
GWAS Ctlgrs397516130
Max Magnitude0
ClinVar
Risk rs397516130(C;C)
Alt rs397516130(C;C)
Reference rs397516130(T;T)
Significance Pathogenic
Disease not specified Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYH7
CLNDBN not specified Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000014.8:g.23895242A>G
CLNSRC Centenary Institute
CLNACC RCV000035761.3, RCV000162340.1,