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rs121434381

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434381(G;T)
Make rs121434381(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position132331123
GeneSETX
is asnp
is mentioned by
dbSNPrs121434381
ebirs121434381
HLIrs121434381
Exacrs121434381
Varsomers121434381
Maprs121434381
PheGenIrs121434381
hapmaprs121434381
1000 genomesrs121434381
hgdprs121434381
ensemblrs121434381
gopubmedrs121434381
geneviewrs121434381
scholarrs121434381
googlers121434381
pharmgkbrs121434381
gwascentralrs121434381
openSNPrs121434381
23andMers121434381
23andMe allrs121434381
SNP Nexus

SNPshotrs121434381
SNPdbers121434381
MSV3drs121434381
GWAS Ctlgrs121434381
Max Magnitude0
OMIM608465
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121434381(T;T)
Alt rs121434381(T;T)
Reference rs121434381(G;G)
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.135206510C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002386.3,