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rs397516252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs397516252(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position23413832
GeneMHRT, MYH7
is asnp
is mentioned by
dbSNPrs397516252
dbSNP (classic)rs397516252
ClinGenrs397516252
ebirs397516252
HLIrs397516252
Exacrs397516252
Gnomadrs397516252
Varsomers397516252
LitVarrs397516252
Maprs397516252
PheGenIrs397516252
Biobankrs397516252
1000 genomesrs397516252
hgdprs397516252
ensemblrs397516252
geneviewrs397516252
scholarrs397516252
googlers397516252
pharmgkbrs397516252
gwascentralrs397516252
openSNPrs397516252
23andMers397516252
SNPshotrs397516252
SNPdbers397516252
MSV3drs397516252
GWAS Ctlgrs397516252
Max Magnitude6.2
ClinVar
Risk rs397516252(G;G)
Alt rs397516252(G;G)
Reference Rs397516252(C;C)
Significance Probable-Pathogenic
Disease Primary dilated cardiomyopathy
Variation info
Gene MYH7 MHRT
CLNDBN Primary dilated cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23883041G>C
CLNSRC ClinVar
CLNACC RCV000035978.3,