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rs727503263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503263(C;T)
Make rs727503263(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23426810
GeneMYH7
is asnp
is mentioned by
dbSNPrs727503263
dbSNP (classic)rs727503263
ClinGenrs727503263
ebirs727503263
HLIrs727503263
Exacrs727503263
Gnomadrs727503263
Varsomers727503263
LitVarrs727503263
Maprs727503263
PheGenIrs727503263
Biobankrs727503263
1000 genomesrs727503263
hgdprs727503263
ensemblrs727503263
geneviewrs727503263
scholarrs727503263
googlers727503263
pharmgkbrs727503263
gwascentralrs727503263
openSNPrs727503263
23andMers727503263
SNPshotrs727503263
SNPdbers727503263
MSV3drs727503263
GWAS Ctlgrs727503263
Max Magnitude0
ClinVar
Risk rs727503263(T;T)
Alt rs727503263(T;T)
Reference Rs727503263(C;C)
Significance Pathogenic
Disease not specified not provided Hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN not specified not provided Hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23896019G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000151282.1, RCV000225696.1, RCV000461116.1,