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rs727504272

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504272(C;T)
Make rs727504272(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23425997
GeneMYH7
is asnp
is mentioned by
dbSNPrs727504272
dbSNP (classic)rs727504272
ClinGenrs727504272
ebirs727504272
HLIrs727504272
Exacrs727504272
Gnomadrs727504272
Varsomers727504272
LitVarrs727504272
Maprs727504272
PheGenIrs727504272
Biobankrs727504272
1000 genomesrs727504272
hgdprs727504272
ensemblrs727504272
geneviewrs727504272
scholarrs727504272
googlers727504272
pharmgkbrs727504272
gwascentralrs727504272
openSNPrs727504272
23andMers727504272
SNPshotrs727504272
SNPdbers727504272
MSV3drs727504272
GWAS Ctlgrs727504272
Max Magnitude0
ClinVar
Risk rs727504272(A;A) rs727504272(T;T)
Alt rs727504272(A;A) rs727504272(T;T)
Reference Rs727504272(C;C)
Significance Pathogenic
Disease not specified Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not specified Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23895206G>A; NC_000014.8:g.23895206G>T
CLNSRC
CLNACC RCV000154269.2, RCV000154344.2, RCV000469589.1,