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rs886039762

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs886039762(A;G)
Make rs886039762(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132675363
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs886039762
dbSNP (classic)rs886039762
ClinGenrs886039762
ebirs886039762
HLIrs886039762
Exacrs886039762
Gnomadrs886039762
Varsomers886039762
LitVarrs886039762
Maprs886039762
PheGenIrs886039762
Biobankrs886039762
1000 genomesrs886039762
hgdprs886039762
ensemblrs886039762
geneviewrs886039762
scholarrs886039762
googlers886039762
pharmgkbrs886039762
gwascentralrs886039762
openSNPrs886039762
23andMers886039762
23andMe allrs886039762
SNPshotrs886039762
SNPdbers886039762
MSV3drs886039762
GWAS Ctlgrs886039762
Max Magnitude0
ClinVar
Risk rs886039762(G;G)
Alt rs886039762(G;G)
Reference Rs886039762(A;A)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene UBA5 NPHP3-ACAD11
CLNDBN Spinocerebellar ataxia, autosomal recessive 24
Reversed 0
HGVS NC_000003.11:g.132394207A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000254733.3,