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rs29001665

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs29001665(C;T)
Make rs29001665(T;T)
ReferenceGRCh38 38.1/141
Chromosome9
Position132331293
GeneSETX
is asnp
is mentioned by
dbSNPrs29001665
ebirs29001665
HLIrs29001665
Exacrs29001665
Varsomers29001665
Maprs29001665
PheGenIrs29001665
hapmaprs29001665
1000 genomesrs29001665
hgdprs29001665
ensemblrs29001665
gopubmedrs29001665
geneviewrs29001665
scholarrs29001665
googlers29001665
pharmgkbrs29001665
gwascentralrs29001665
openSNPrs29001665
23andMers29001665
23andMe allrs29001665
SNP Nexus

SNPshotrs29001665
SNPdbers29001665
MSV3drs29001665
GWAS Ctlgrs29001665
Max Magnitude0
OMIM608465
DescATAXIA-OCULAR APRAXIA 2
Variant0005
Relatedalso
Neighborrs29001584
Distance861


ClinVar
Risk rs29001665(T;T)
Alt rs29001665(T;T)
Reference rs29001665(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.135206680G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002378.3,