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rs121908132

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908132(G;G)
Make rs121908132(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position32974544
GeneAPTX
is asnp
is mentioned by
dbSNPrs121908132
ebirs121908132
HLIrs121908132
Exacrs121908132
Varsomers121908132
Maprs121908132
PheGenIrs121908132
hapmaprs121908132
1000 genomesrs121908132
hgdprs121908132
ensemblrs121908132
gopubmedrs121908132
geneviewrs121908132
scholarrs121908132
googlers121908132
pharmgkbrs121908132
gwascentralrs121908132
openSNPrs121908132
23andMers121908132
23andMe allrs121908132
SNP Nexus

SNPshotrs121908132
SNPdbers121908132
MSV3drs121908132
GWAS Ctlgrs121908132
Max Magnitude0
OMIM606350
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908132(G;G)
Alt rs121908132(G;G)
Reference rs121908132(T;T)
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.32974542A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004678.2,