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rs121434379

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434379(G;G)
Make rs121434379(G;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position132296909
GeneSETX
is asnp
is mentioned by
dbSNPrs121434379
ebirs121434379
HLIrs121434379
Exacrs121434379
Varsomers121434379
Maprs121434379
PheGenIrs121434379
hapmaprs121434379
1000 genomesrs121434379
hgdprs121434379
ensemblrs121434379
gopubmedrs121434379
geneviewrs121434379
scholarrs121434379
googlers121434379
pharmgkbrs121434379
gwascentralrs121434379
openSNPrs121434379
23andMers121434379
23andMe allrs121434379
SNP Nexus

SNPshotrs121434379
SNPdbers121434379
MSV3drs121434379
GWAS Ctlgrs121434379
Max Magnitude0
OMIM608465
Desc
Variant0009
Relatedalso
ClinVar
Risk rs121434379(G;G)
Alt rs121434379(G;G)
Reference rs121434379(T;T)
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.135172296A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002382.4,