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rs587776594

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587776594(-;-)
Make rs587776594(-;A)
ReferenceGRCh38 38.1/142
Chromosome9
Position32974492
GeneAPTX
is asnp
is mentioned by
dbSNPrs587776594
dbSNP (old)rs587776594
ClinGenrs587776594
ebirs587776594
HLIrs587776594
Exacrs587776594
Gnomadrs587776594
Varsomers587776594
Maprs587776594
PheGenIrs587776594
Biobankrs587776594
1000 genomesrs587776594
hgdprs587776594
ensemblrs587776594
gopubmedrs587776594
geneviewrs587776594
scholarrs587776594
googlers587776594
pharmgkbrs587776594
gwascentralrs587776594
openSNPrs587776594
23andMers587776594
23andMe allrs587776594
SNP Nexus

SNPshotrs587776594
SNPdbers587776594
MSV3drs587776594
GWAS Ctlgrs587776594
Max Magnitude0
ClinVar
Risk rs587776594(-;-)
Alt rs587776594(-;-)
Reference Rs587776594(A;A)
Significance Pathogenic
Disease Adult onset ataxia with oculomotor apraxia
Variation info
Gene APTX
CLNDBN Adult onset ataxia with oculomotor apraxia
Reversed 0
HGVS NC_000009.11:g.32974490delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004677.2,