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rs587776593

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776593(-;-)
Make rs587776593(-;A)
Make rs587776593(A;A)
ReferenceGRCh38 38.1/142
Chromosome9
Position32984712
GeneAPTX
is asnp
is mentioned by
dbSNPrs587776593
ebirs587776593
HLIrs587776593
Exacrs587776593
Varsomers587776593
Maprs587776593
PheGenIrs587776593
hapmaprs587776593
1000 genomesrs587776593
hgdprs587776593
ensemblrs587776593
gopubmedrs587776593
geneviewrs587776593
scholarrs587776593
googlers587776593
pharmgkbrs587776593
gwascentralrs587776593
openSNPrs587776593
23andMers587776593
23andMe allrs587776593
SNP Nexus

SNPshotrs587776593
SNPdbers587776593
MSV3drs587776593
GWAS Ctlgrs587776593
Max Magnitude0
ClinVar
Risk rs587776593(A;A)
Alt rs587776593(A;A)
Reference rs587776593(;)
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.32984710dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004675.2,