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rs121434380

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434380(C;T)
Make rs121434380(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position132296907
GeneSETX
is asnp
is mentioned by
dbSNPrs121434380
ebirs121434380
HLIrs121434380
Exacrs121434380
Varsomers121434380
Maprs121434380
PheGenIrs121434380
hapmaprs121434380
1000 genomesrs121434380
hgdprs121434380
ensemblrs121434380
gopubmedrs121434380
geneviewrs121434380
scholarrs121434380
googlers121434380
pharmgkbrs121434380
gwascentralrs121434380
openSNPrs121434380
23andMers121434380
23andMe allrs121434380
SNP Nexus

SNPshotrs121434380
SNPdbers121434380
MSV3drs121434380
GWAS Ctlgrs121434380
Max Magnitude0
OMIM608465
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121434380(T;T)
Alt rs121434380(T;T)
Reference rs121434380(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.135172294G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002385.3,