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rs121912775

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912775(A;A)
Make rs121912775(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position2550020
GeneCACNA1C
is asnp
is mentioned by
dbSNPrs121912775
ebirs121912775
HLIrs121912775
Exacrs121912775
Varsomers121912775
Maprs121912775
PheGenIrs121912775
hapmaprs121912775
1000 genomesrs121912775
hgdprs121912775
ensemblrs121912775
gopubmedrs121912775
geneviewrs121912775
scholarrs121912775
googlers121912775
pharmgkbrs121912775
gwascentralrs121912775
openSNPrs121912775
23andMers121912775
23andMe allrs121912775
SNP Nexus

SNPshotrs121912775
SNPdbers121912775
MSV3drs121912775
GWAS Ctlgrs121912775
Max Magnitude0
OMIM114205
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121912775(A;A)
Alt rs121912775(A;A)
Reference rs121912775(G;G)
Significance Pathogenic
Disease Brugada syndrome 3 Brugada syndrome not specified Long QT syndrome
Variation info
Gene CACNA1C
CLNDBN Brugada syndrome 3 Brugada syndrome not specified Long QT syndrome
Reversed 0
HGVS NC_000012.11:g.2659186G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019201.29, RCV000058286.2, RCV000170775.3, RCV000231239.1,


[PMID 17224476OA-icon.png] Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.


[PMID 20817017OA-icon.png] Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.