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rs121908131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908131(C;T)
Make rs121908131(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position32984784
GeneAPTX
is asnp
is mentioned by
dbSNPrs121908131
ebirs121908131
HLIrs121908131
Exacrs121908131
Varsomers121908131
Maprs121908131
PheGenIrs121908131
hapmaprs121908131
1000 genomesrs121908131
hgdprs121908131
ensemblrs121908131
gopubmedrs121908131
geneviewrs121908131
scholarrs121908131
googlers121908131
pharmgkbrs121908131
gwascentralrs121908131
openSNPrs121908131
23andMers121908131
23andMe allrs121908131
SNP Nexus

SNPshotrs121908131
SNPdbers121908131
MSV3drs121908131
GWAS Ctlgrs121908131
Max Magnitude0
OMIM606350
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908131(T;T)
Alt rs121908131(T;T)
Reference rs121908131(C;C)
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.32984782G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004676.2,