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rs730880946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs730880946(A;G)
Make rs730880946(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position110915781
GeneMYL2
is asnp
is mentioned by
dbSNPrs730880946
dbSNP (classic)rs730880946
ClinGenrs730880946
ebirs730880946
HLIrs730880946
Exacrs730880946
Gnomadrs730880946
Varsomers730880946
LitVarrs730880946
Maprs730880946
PheGenIrs730880946
Biobankrs730880946
1000 genomesrs730880946
hgdprs730880946
ensemblrs730880946
geneviewrs730880946
scholarrs730880946
googlers730880946
pharmgkbrs730880946
gwascentralrs730880946
openSNPrs730880946
23andMers730880946
SNPshotrs730880946
SNPdbers730880946
MSV3drs730880946
GWAS Ctlgrs730880946
Max Magnitude0
ClinVar
Risk rs730880946(G;G)
Alt rs730880946(G;G)
Reference Rs730880946(A;A)
Significance Probable-Pathogenic
Disease Cardiomyopathy
Variation info
Gene MYL2
CLNDBN Cardiomyopathy
Reversed 1
HGVS NC_000012.11:g.111353585T>C
CLNSRC
CLNACC RCV000158917.1,