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rs727503269

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs727503269(A;G)
Make rs727503269(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position23429329
GeneMYH7
is asnp
is mentioned by
dbSNPrs727503269
dbSNP (classic)rs727503269
ClinGenrs727503269
ebirs727503269
HLIrs727503269
Exacrs727503269
Gnomadrs727503269
Varsomers727503269
LitVarrs727503269
Maprs727503269
PheGenIrs727503269
Biobankrs727503269
1000 genomesrs727503269
hgdprs727503269
ensemblrs727503269
geneviewrs727503269
scholarrs727503269
googlers727503269
pharmgkbrs727503269
gwascentralrs727503269
openSNPrs727503269
23andMers727503269
SNPshotrs727503269
SNPdbers727503269
MSV3drs727503269
GWAS Ctlgrs727503269
Max Magnitude0
ClinVar
Risk rs727503269(G;G)
Alt rs727503269(G;G)
Reference Rs727503269(A;A)
Significance Pathogenic
Disease Cardiomyopathy Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYH7
CLNDBN Cardiomyopathy Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000014.8:g.23898538T>C
CLNSRC
CLNACC RCV000151296.1, RCV000487451.1,