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rs730880056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs730880056(C;C)
Make rs730880056(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position2593261
GeneCACNA1C
is asnp
is mentioned by
dbSNPrs730880056
dbSNP (classic)rs730880056
ClinGenrs730880056
ebirs730880056
HLIrs730880056
Exacrs730880056
Gnomadrs730880056
Varsomers730880056
LitVarrs730880056
Maprs730880056
PheGenIrs730880056
Biobankrs730880056
1000 genomesrs730880056
hgdprs730880056
ensemblrs730880056
geneviewrs730880056
scholarrs730880056
googlers730880056
pharmgkbrs730880056
gwascentralrs730880056
openSNPrs730880056
23andMers730880056
SNPshotrs730880056
SNPdbers730880056
MSV3drs730880056
GWAS Ctlgrs730880056
Max Magnitude0
ClinVar
Risk rs730880056(A;A) rs730880056(C;C)
Alt rs730880056(A;A) rs730880056(C;C)
Reference Rs730880056(G;G)
Significance Probable-Pathogenic
Disease Long QT syndrome
Variation info
Gene CACNA1C
CLNDBN Long QT syndrome
Reversed 0
HGVS NC_000012.11:g.2702427G>C
CLNSRC
CLNACC RCV000157123.1,