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rs184841813

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs184841813(A;A)
Make rs184841813(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position138058108
GeneCACNA1B
is asnp
is mentioned by
dbSNPrs184841813
dbSNP (classic)rs184841813
ClinGenrs184841813
ebirs184841813
HLIrs184841813
Exacrs184841813
Gnomadrs184841813
Varsomers184841813
LitVarrs184841813
Maprs184841813
PheGenIrs184841813
Biobankrs184841813
1000 genomesrs184841813
hgdprs184841813
ensemblrs184841813
geneviewrs184841813
scholarrs184841813
googlers184841813
pharmgkbrs184841813
gwascentralrs184841813
openSNPrs184841813
23andMers184841813
SNPshotrs184841813
SNPdbers184841813
MSV3drs184841813
GWAS Ctlgrs184841813
Max Magnitude0
ClinVar
Risk rs184841813(A;A)
Alt rs184841813(A;A)
Reference Rs184841813(G;G)
Significance Pathogenic
Disease Dystonia 23
Variation info
Gene CACNA1B
CLNDBN Dystonia 23
Reversed 0
HGVS NC_000009.11:g.140952560G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000169631.4,