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rs797045067

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCAATAGAAA;GCAATAGAAA) 0 common in clinvar
Make rs797045067(-;-)
Make rs797045067(-;GCAATAGAAA)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position132297006
GeneSETX
is asnp
is mentioned by
dbSNPrs797045067
dbSNP (old)rs797045067
ClinGenrs797045067
ebirs797045067
HLIrs797045067
Exacrs797045067
Gnomadrs797045067
Varsomers797045067
Maprs797045067
PheGenIrs797045067
Biobankrs797045067
1000 genomesrs797045067
hgdprs797045067
ensemblrs797045067
gopubmedrs797045067
geneviewrs797045067
scholarrs797045067
googlers797045067
pharmgkbrs797045067
gwascentralrs797045067
openSNPrs797045067
23andMers797045067
23andMe allrs797045067
SNP Nexus

SNPshotrs797045067
SNPdbers797045067
MSV3drs797045067
GWAS Ctlgrs797045067
Max Magnitude0
ClinVar
Risk rs797045067(-;-)
Alt rs797045067(-;-)
Reference Rs797045067(GCAATAGAAA;GCAATAGAAA)
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.135172393_135172402delTTTCTATTGC
CLNSRC Baylor College of Medicine
CLNACC RCV000191126.3,