Have questions? Visit https://www.reddit.com/r/SNPedia

rs786205748

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205748(C;T)
Make rs786205748(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome12
Position2566465
GeneCACNA1C
is asnp
is mentioned by
dbSNPrs786205748
dbSNP (classic)rs786205748
ClinGenrs786205748
ebirs786205748
HLIrs786205748
Exacrs786205748
Gnomadrs786205748
Varsomers786205748
LitVarrs786205748
Maprs786205748
PheGenIrs786205748
Biobankrs786205748
1000 genomesrs786205748
hgdprs786205748
ensemblrs786205748
geneviewrs786205748
scholarrs786205748
googlers786205748
pharmgkbrs786205748
gwascentralrs786205748
openSNPrs786205748
23andMers786205748
SNPshotrs786205748
SNPdbers786205748
MSV3drs786205748
GWAS Ctlgrs786205748
Max Magnitude0
ClinVar
Risk rs786205748(T;T)
Alt rs786205748(T;T)
Reference Rs786205748(C;C)
Significance Pathogenic
Disease not provided Long QT syndrome
Variation info
Gene CACNA1C
CLNDBN not provided Long QT syndrome
Reversed 0
HGVS NC_000012.11:g.2675631C>T
CLNSRC
CLNACC RCV000170780.5, RCV000232889.2,