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rs759274321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs759274321(C;T)
Make rs759274321(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position53673723
GeneCACNA1D
is asnp
is mentioned by
dbSNPrs759274321
dbSNP (classic)rs759274321
ClinGenrs759274321
ebirs759274321
HLIrs759274321
Exacrs759274321
Gnomadrs759274321
Varsomers759274321
LitVarrs759274321
Maprs759274321
PheGenIrs759274321
Biobankrs759274321
1000 genomesrs759274321
hgdprs759274321
ensemblrs759274321
geneviewrs759274321
scholarrs759274321
googlers759274321
pharmgkbrs759274321
gwascentralrs759274321
openSNPrs759274321
23andMers759274321
SNPshotrs759274321
SNPdbers759274321
MSV3drs759274321
GWAS Ctlgrs759274321
Max Magnitude0
ClinVar
Risk rs759274321(T;T)
Alt rs759274321(T;T)
Reference Rs759274321(C;C)
Significance Pathogenic
Disease Sinoatrial node dysfunction and deafness
Variation info
Gene CACNA1D
CLNDBN Sinoatrial node dysfunction and deafness
Reversed 0
HGVS NC_000003.11:g.53707750C>T
CLNSRC
CLNACC RCV000454162.1,