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rs104894103

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894103(A;A)
Make rs104894103(A;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position32974495
GeneAPTX
is asnp
is mentioned by
dbSNPrs104894103
ebirs104894103
HLIrs104894103
Exacrs104894103
Varsomers104894103
Maprs104894103
PheGenIrs104894103
hapmaprs104894103
1000 genomesrs104894103
hgdprs104894103
ensemblrs104894103
gopubmedrs104894103
geneviewrs104894103
scholarrs104894103
googlers104894103
pharmgkbrs104894103
gwascentralrs104894103
openSNPrs104894103
23andMers104894103
23andMe allrs104894103
SNP Nexus

SNPshotrs104894103
SNPdbers104894103
MSV3drs104894103
GWAS Ctlgrs104894103
Max Magnitude0
OMIM606350
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894103(A,C;A,C)
Alt rs104894103(A,C;A,C)
Reference rs104894103(G;G)
Significance Pathogenic
Disease Adult onset ataxia with oculomotor apraxia not provided
Variation info
Gene APTX
CLNDBN Adult onset ataxia with oculomotor apraxia not provided
Reversed 1
HGVS NC_000009.11:g.32974493C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004681.2, RCV000197775.1,