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rs121908133

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908133(A;G)
Make rs121908133(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position32984799
GeneAPTX
is asnp
is mentioned by
dbSNPrs121908133
ebirs121908133
HLIrs121908133
Exacrs121908133
Varsomers121908133
Maprs121908133
PheGenIrs121908133
hapmaprs121908133
1000 genomesrs121908133
hgdprs121908133
ensemblrs121908133
gopubmedrs121908133
geneviewrs121908133
scholarrs121908133
googlers121908133
pharmgkbrs121908133
gwascentralrs121908133
openSNPrs121908133
23andMers121908133
23andMe allrs121908133
SNP Nexus

SNPshotrs121908133
SNPdbers121908133
MSV3drs121908133
GWAS Ctlgrs121908133
Max Magnitude0
OMIM606350
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908133(G;G)
Alt rs121908133(G;G)
Reference rs121908133(A;A)
Significance Pathogenic
Disease Adult onset ataxia with oculomotor apraxia
Variation info
Gene APTX
CLNDBN Adult onset ataxia with oculomotor apraxia
Reversed 1
HGVS NC_000009.11:g.32984797T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004679.2,