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rs397516212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516212(G;T)
Make rs397516212(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23432703
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516212
ebirs397516212
HLIrs397516212
Exacrs397516212
Varsomers397516212
Maprs397516212
PheGenIrs397516212
hapmaprs397516212
1000 genomesrs397516212
hgdprs397516212
ensemblrs397516212
gopubmedrs397516212
geneviewrs397516212
scholarrs397516212
googlers397516212
pharmgkbrs397516212
gwascentralrs397516212
openSNPrs397516212
23andMers397516212
23andMe allrs397516212
SNP Nexus

SNPshotrs397516212
SNPdbers397516212
MSV3drs397516212
GWAS Ctlgrs397516212
Max Magnitude0
ClinVar
Risk rs397516212(T;T)
Alt rs397516212(T;T)
Reference rs397516212(G;G)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 1
Reversed 1
HGVS NC_000014.8:g.23901912C>A
CLNSRC Centenary Institute
CLNACC RCV000035907.3, RCV000162334.1,