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rs121912776

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912776(C;T)
Make rs121912776(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position2115290
GeneCACNA1C
is asnp
is mentioned by
dbSNPrs121912776
ebirs121912776
HLIrs121912776
Exacrs121912776
Varsomers121912776
Maprs121912776
PheGenIrs121912776
hapmaprs121912776
1000 genomesrs121912776
hgdprs121912776
ensemblrs121912776
gopubmedrs121912776
geneviewrs121912776
scholarrs121912776
googlers121912776
pharmgkbrs121912776
gwascentralrs121912776
openSNPrs121912776
23andMers121912776
23andMe allrs121912776
SNP Nexus

SNPshotrs121912776
SNPdbers121912776
MSV3drs121912776
GWAS Ctlgrs121912776
Max Magnitude0
OMIM114205
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912776(T;T)
Alt rs121912776(T;T)
Reference rs121912776(C;C)
Significance Pathogenic
Disease Brugada syndrome 3 Brugada syndrome
Variation info
Gene CACNA1C
CLNDBN Brugada syndrome 3 Brugada syndrome
Reversed 0
HGVS NC_000012.11:g.2224456C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019202.30, RCV000058283.2,


[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.