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rs727505132

From SNPedia

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


Make rs727505132(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23424921
GeneMYH7
is asnp
is mentioned by
dbSNPrs727505132
dbSNP (classic)rs727505132
ClinGenrs727505132
ebirs727505132
HLIrs727505132
Exacrs727505132
Gnomadrs727505132
Varsomers727505132
LitVarrs727505132
Maprs727505132
PheGenIrs727505132
Biobankrs727505132
1000 genomesrs727505132
hgdprs727505132
ensemblrs727505132
geneviewrs727505132
scholarrs727505132
googlers727505132
pharmgkbrs727505132
gwascentralrs727505132
openSNPrs727505132
23andMers727505132
SNPshotrs727505132
SNPdbers727505132
MSV3drs727505132
GWAS Ctlgrs727505132
Max Magnitude6.2
ClinVar
Risk rs727505132(A;A)
Alt rs727505132(A;A)
Reference Rs727505132(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23894130C>T
CLNSRC
CLNACC RCV000156591.1,