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rs121434376

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434376(C;T)
Make rs121434376(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position132327511
GeneSETX
is asnp
is mentioned by
dbSNPrs121434376
ebirs121434376
HLIrs121434376
Exacrs121434376
Varsomers121434376
Maprs121434376
PheGenIrs121434376
hapmaprs121434376
1000 genomesrs121434376
hgdprs121434376
ensemblrs121434376
gopubmedrs121434376
geneviewrs121434376
scholarrs121434376
googlers121434376
pharmgkbrs121434376
gwascentralrs121434376
openSNPrs121434376
23andMers121434376
23andMe allrs121434376
SNP Nexus

SNPshotrs121434376
SNPdbers121434376
MSV3drs121434376
GWAS Ctlgrs121434376
Max Magnitude0
OMIM608465
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434376(T;T)
Alt rs121434376(T;T)
Reference rs121434376(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.135202898G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002374.3,