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rs587776536

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTTTC;CTTTC) 0 common in clinvar
Make rs587776536(-;-)
Make rs587776536(-;CTTTC)
ReferenceGRCh38 38.1/142
Chromosome9
Position132328627
GeneSETX
is asnp
is mentioned by
dbSNPrs587776536
ebirs587776536
HLIrs587776536
Exacrs587776536
Varsomers587776536
Maprs587776536
PheGenIrs587776536
hapmaprs587776536
1000 genomesrs587776536
hgdprs587776536
ensemblrs587776536
gopubmedrs587776536
geneviewrs587776536
scholarrs587776536
googlers587776536
pharmgkbrs587776536
gwascentralrs587776536
openSNPrs587776536
23andMers587776536
23andMe allrs587776536
SNP Nexus

SNPshotrs587776536
SNPdbers587776536
MSV3drs587776536
GWAS Ctlgrs587776536
Max Magnitude0
ClinVar
Risk rs587776536(;)
Alt rs587776536(;)
Reference rs587776536(CTTTC;CTTTC)
Significance Pathogenic
Disease Spinocerebellar ataxia autosomal recessive 1
Variation info
Gene SETX
CLNDBN Spinocerebellar ataxia autosomal recessive 1
Reversed 0
HGVS NC_000009.11:g.135204014_135204018delCTTTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002377.4,