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rs398122827

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs398122827(-;GGG)
Make rs398122827(GGG;GGG)
ReferenceGRCh38 38.1/141
Chromosome3
Position53673804
GeneCACNA1D
is asnp
is mentioned by
dbSNPrs398122827
dbSNP (classic)rs398122827
ClinGenrs398122827
ebirs398122827
HLIrs398122827
Exacrs398122827
Gnomadrs398122827
Varsomers398122827
LitVarrs398122827
Maprs398122827
PheGenIrs398122827
Biobankrs398122827
1000 genomesrs398122827
hgdprs398122827
ensemblrs398122827
geneviewrs398122827
scholarrs398122827
googlers398122827
pharmgkbrs398122827
gwascentralrs398122827
openSNPrs398122827
23andMers398122827
SNPshotrs398122827
SNPdbers398122827
MSV3drs398122827
GWAS Ctlgrs398122827
Max Magnitude0
ClinVar
Risk rs398122827(GGG;GGG)
Alt rs398122827(GGG;GGG)
Reference Rs398122827(-;-)
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.53707831_53707832insGGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000032914.27,