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rs397516134

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 6.2 Familial Hypertrophic Cardiomyopathy
(G;G) 0 common in clinvar


Make rs397516134(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position23426003
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516134
dbSNP (classic)rs397516134
ClinGenrs397516134
ebirs397516134
HLIrs397516134
Exacrs397516134
Gnomadrs397516134
Varsomers397516134
LitVarrs397516134
Maprs397516134
PheGenIrs397516134
Biobankrs397516134
1000 genomesrs397516134
hgdprs397516134
ensemblrs397516134
geneviewrs397516134
scholarrs397516134
googlers397516134
pharmgkbrs397516134
gwascentralrs397516134
openSNPrs397516134
23andMers397516134
SNPshotrs397516134
SNPdbers397516134
MSV3drs397516134
GWAS Ctlgrs397516134
Max Magnitude6.2
ClinVar
Risk rs397516134(C;C) rs397516134(T;T)
Alt rs397516134(C;C) rs397516134(T;T)
Reference Rs397516134(G;G)
Significance Probable-Pathogenic
Disease not specified not provided
Variation info
Gene MYH7
CLNDBN not specified not provided
Reversed 1
HGVS NC_000014.8:g.23895212C>A; NC_000014.8:g.23895212C>G
CLNSRC ClinVar
CLNACC RCV000035766.3, RCV000035765.3, RCV000158509.2,