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rs398122923

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122923(A;A)
Make rs398122923(A;G)
ReferenceGRCh38 38.1/141
Chromosome18
Position11824933
GeneGNAL
is asnp
is mentioned by
dbSNPrs398122923
dbSNP (classic)rs398122923
ClinGenrs398122923
ebirs398122923
HLIrs398122923
Exacrs398122923
Gnomadrs398122923
Varsomers398122923
LitVarrs398122923
Maprs398122923
PheGenIrs398122923
Biobankrs398122923
1000 genomesrs398122923
hgdprs398122923
ensemblrs398122923
geneviewrs398122923
scholarrs398122923
googlers398122923
pharmgkbrs398122923
gwascentralrs398122923
openSNPrs398122923
23andMers398122923
SNPshotrs398122923
SNPdbers398122923
MSV3drs398122923
GWAS Ctlgrs398122923
Max Magnitude0
ClinVar
Risk rs398122923(A;A)
Alt rs398122923(A;A)
Reference Rs398122923(G;G)
Significance Pathogenic
Disease Dystonia 25
Variation info
Gene GNAL
CLNDBN Dystonia 25
Reversed 0
HGVS NC_000018.9:g.11824932G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000033101.23,