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rs730880931

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880931(A;T)
Make rs730880931(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23427677
GeneMYH7
is asnp
is mentioned by
dbSNPrs730880931
dbSNP (classic)rs730880931
ClinGenrs730880931
ebirs730880931
HLIrs730880931
Exacrs730880931
Gnomadrs730880931
Varsomers730880931
LitVarrs730880931
Maprs730880931
PheGenIrs730880931
Biobankrs730880931
1000 genomesrs730880931
hgdprs730880931
ensemblrs730880931
geneviewrs730880931
scholarrs730880931
googlers730880931
pharmgkbrs730880931
gwascentralrs730880931
openSNPrs730880931
23andMers730880931
SNPshotrs730880931
SNPdbers730880931
MSV3drs730880931
GWAS Ctlgrs730880931
Max Magnitude0
ClinVar
Risk rs730880931(T;T)
Alt rs730880931(T;T)
Reference Rs730880931(A;A)
Significance Probable-Pathogenic
Disease Cardiomyopathy
Variation info
Gene MYH7
CLNDBN Cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23896886T>A
CLNSRC
CLNACC RCV000158891.1,