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rs786205745

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786205745(A;A)
Make rs786205745(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position2504538
GeneCACNA1C
is asnp
is mentioned by
dbSNPrs786205745
ebirs786205745
HLIrs786205745
Exacrs786205745
Varsomers786205745
Maprs786205745
PheGenIrs786205745
hapmaprs786205745
1000 genomesrs786205745
hgdprs786205745
ensemblrs786205745
gopubmedrs786205745
geneviewrs786205745
scholarrs786205745
googlers786205745
pharmgkbrs786205745
gwascentralrs786205745
openSNPrs786205745
23andMers786205745
23andMe allrs786205745
SNP Nexus

SNPshotrs786205745
SNPdbers786205745
MSV3drs786205745
GWAS Ctlgrs786205745
Max Magnitude0
ClinVar
Risk rs786205745(A,C;A,C)
Alt rs786205745(A,C;A,C)
Reference rs786205745(G;G)
Significance Pathogenic
Disease not provided Timothy syndrome
Variation info
Gene CACNA1C
CLNDBN not provided Timothy syndrome
Reversed 0
HGVS NC_000012.11:g.2613704G>A; NC_000012.11:g.2613704G>C
CLNSRC
CLNACC RCV000170769.2, RCV000192272.1, RCV000170770.2, RCV000208468.1,