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rs727503296

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6.2 Familial Hypertrophic Cardiomyopathy
Make rs727503296(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position110911096
GeneMYL2
is asnp
is mentioned by
dbSNPrs727503296
dbSNP (classic)rs727503296
ClinGenrs727503296
ebirs727503296
HLIrs727503296
Exacrs727503296
Gnomadrs727503296
Varsomers727503296
LitVarrs727503296
Maprs727503296
PheGenIrs727503296
Biobankrs727503296
1000 genomesrs727503296
hgdprs727503296
ensemblrs727503296
geneviewrs727503296
scholarrs727503296
googlers727503296
pharmgkbrs727503296
gwascentralrs727503296
openSNPrs727503296
23andMers727503296
SNPshotrs727503296
SNPdbers727503296
MSV3drs727503296
GWAS Ctlgrs727503296
Max Magnitude6.2
ClinVar
Risk rs727503296(G;G)
Alt rs727503296(G;G)
Reference Rs727503296(A;A)
Significance Probable-Pathogenic
Disease Primary familial hypertrophic cardiomyopathy
Variation info
Gene MYL2
CLNDBN Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.111348900T>C
CLNSRC
CLNACC RCV000151360.2,