Have questions? Visit https://www.reddit.com/r/SNPedia

rs28940290

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940290(C;T)
Make rs28940290(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position132281483
GeneSETX
is asnp
is mentioned by
dbSNPrs28940290
ebirs28940290
HLIrs28940290
Exacrs28940290
Varsomers28940290
Maprs28940290
PheGenIrs28940290
hapmaprs28940290
1000 genomesrs28940290
hgdprs28940290
ensemblrs28940290
gopubmedrs28940290
geneviewrs28940290
scholarrs28940290
googlers28940290
pharmgkbrs28940290
gwascentralrs28940290
openSNPrs28940290
23andMers28940290
23andMe allrs28940290
SNP Nexus

SNPshotrs28940290
SNPdbers28940290
MSV3drs28940290
GWAS Ctlgrs28940290
Max Magnitude0
OMIM608465
DescATAXIA-OCULAR APRAXIA 2
Variant0003
Relatedalso
ClinVar
Risk rs28940290(T;T)
Alt rs28940290(T;T)
Reference rs28940290(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia autosomal recessive 1
Variation info
Gene SETX
CLNDBN Spinocerebellar ataxia autosomal recessive 1
Reversed 1
HGVS NC_000009.11:g.135156870G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002376.4,