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rs750835733

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs750835733(C;G)
Make rs750835733(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position2593252
GeneCACNA1C
is asnp
is mentioned by
dbSNPrs750835733
dbSNP (classic)rs750835733
ClinGenrs750835733
ebirs750835733
HLIrs750835733
Exacrs750835733
Gnomadrs750835733
Varsomers750835733
LitVarrs750835733
Maprs750835733
PheGenIrs750835733
Biobankrs750835733
1000 genomesrs750835733
hgdprs750835733
ensemblrs750835733
geneviewrs750835733
scholarrs750835733
googlers750835733
pharmgkbrs750835733
gwascentralrs750835733
openSNPrs750835733
23andMers750835733
SNPshotrs750835733
SNPdbers750835733
MSV3drs750835733
GWAS Ctlgrs750835733
Max Magnitude0
ClinVar
Risk rs750835733(G;G) rs750835733(T;T)
Alt rs750835733(G;G) rs750835733(T;T)
Reference Rs750835733(C;C)
Significance Probable-Pathogenic
Disease Long QT syndrome
Variation info
Gene CACNA1C
CLNDBN Long QT syndrome
Reversed 0
HGVS NC_000012.11:g.2702418C>T
CLNSRC
CLNACC RCV000208178.1,