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rs267607044

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607044(C;T)
Make rs267607044(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position132327718
GeneSETX
is asnp
is mentioned by
dbSNPrs267607044
ebirs267607044
HLIrs267607044
Exacrs267607044
Varsomers267607044
Maprs267607044
PheGenIrs267607044
hapmaprs267607044
1000 genomesrs267607044
hgdprs267607044
ensemblrs267607044
gopubmedrs267607044
geneviewrs267607044
scholarrs267607044
googlers267607044
pharmgkbrs267607044
gwascentralrs267607044
openSNPrs267607044
23andMers267607044
23andMe allrs267607044
SNP Nexus

SNPshotrs267607044
SNPdbers267607044
MSV3drs267607044
GWAS Ctlgrs267607044
Max Magnitude0
ClinVar
Risk rs267607044(T;T)
Alt rs267607044(T;T)
Reference rs267607044(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.135203105G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002384.4,