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rs730882209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs730882209(-;G)
Make rs730882209(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome9
Position132326375
GeneSETX
is asnp
is mentioned by
dbSNPrs730882209
dbSNP (classic)rs730882209
ClinGenrs730882209
ebirs730882209
HLIrs730882209
Exacrs730882209
Gnomadrs730882209
Varsomers730882209
LitVarrs730882209
Maprs730882209
PheGenIrs730882209
Biobankrs730882209
1000 genomesrs730882209
hgdprs730882209
ensemblrs730882209
geneviewrs730882209
scholarrs730882209
googlers730882209
pharmgkbrs730882209
gwascentralrs730882209
openSNPrs730882209
23andMers730882209
SNPshotrs730882209
SNPdbers730882209
MSV3drs730882209
GWAS Ctlgrs730882209
Max Magnitude0
ClinVar
Risk rs730882209(G;G)
Alt rs730882209(G;G)
Reference Rs730882209(-;-)
Significance Probable-Pathogenic
Disease Ataxia Cerebellar atrophy Dysdiadochokinesis Dysmetria Nystagmus Slightly reduced reflexes Slurred speech
Variation info
Gene SETX
CLNDBN Ataxia Cerebellar atrophy Dysdiadochokinesis Dysmetria Nystagmus Slightly reduced reflexes Slurred speech
Reversed 1
HGVS NC_000009.11:g.135201763dupC
CLNSRC King Faisal Specialist Hospital and Research Center
CLNACC RCV000162115.1,