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rs727503297

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503297(G;T)
Make rs727503297(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position110913324
GeneMYL2
is asnp
is mentioned by
dbSNPrs727503297
dbSNP (classic)rs727503297
ClinGenrs727503297
ebirs727503297
HLIrs727503297
Exacrs727503297
Gnomadrs727503297
Varsomers727503297
LitVarrs727503297
Maprs727503297
PheGenIrs727503297
Biobankrs727503297
1000 genomesrs727503297
hgdprs727503297
ensemblrs727503297
geneviewrs727503297
scholarrs727503297
googlers727503297
pharmgkbrs727503297
gwascentralrs727503297
openSNPrs727503297
23andMers727503297
SNPshotrs727503297
SNPdbers727503297
MSV3drs727503297
GWAS Ctlgrs727503297
Max Magnitude0
ClinVar
Risk rs727503297(T;T)
Alt rs727503297(T;T)
Reference Rs727503297(G;G)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYL2
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.111351128C>A
CLNSRC
CLNACC RCV000151362.1,