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rs397516115

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs397516115(A;A)
Make rs397516115(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23427865
GeneMYH7
is asnp
is mentioned by
dbSNPrs397516115
dbSNP (classic)rs397516115
ClinGenrs397516115
ebirs397516115
HLIrs397516115
Exacrs397516115
Gnomadrs397516115
Varsomers397516115
LitVarrs397516115
Maprs397516115
PheGenIrs397516115
Biobankrs397516115
1000 genomesrs397516115
hgdprs397516115
ensemblrs397516115
geneviewrs397516115
scholarrs397516115
googlers397516115
pharmgkbrs397516115
gwascentralrs397516115
openSNPrs397516115
23andMers397516115
SNPshotrs397516115
SNPdbers397516115
MSV3drs397516115
GWAS Ctlgrs397516115
Max Magnitude6.2
ClinVar
Risk rs397516115(A;A) rs397516115(T;T)
Alt rs397516115(A;A) rs397516115(T;T)
Reference Rs397516115(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not specified
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy not specified
Reversed 1
HGVS NC_000014.8:g.23897074C>A; NC_000014.8:g.23897074C>T
CLNSRC
CLNACC RCV000154263.2, RCV000035735.3,