Have questions? Visit https://www.reddit.com/r/SNPedia

rs540839115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Carrier of a mutation for spinocerebellar ataxia-24
(T;T) 6.9 Spinocerebellar ataxia-24
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position132672101
GeneNPHP3-ACAD11, UBA5
is asnp
is mentioned by
dbSNPrs540839115
dbSNP (classic)rs540839115
ClinGenrs540839115
ebirs540839115
HLIrs540839115
Exacrs540839115
Gnomadrs540839115
Varsomers540839115
LitVarrs540839115
Maprs540839115
PheGenIrs540839115
Biobankrs540839115
1000 genomesrs540839115
hgdprs540839115
ensemblrs540839115
geneviewrs540839115
scholarrs540839115
googlers540839115
pharmgkbrs540839115
gwascentralrs540839115
openSNPrs540839115
23andMers540839115
23andMe allrs540839115
SNPshotrs540839115
SNPdbers540839115
MSV3drs540839115
GWAS Ctlgrs540839115
Max Magnitude6.9

UBA5 gene, c.736C>T (p.Arg246Ter)

The minor allele is reported in ClinVar as being pathogenic for autosomal recessive spinocerebellar ataxia-24.

ClinVar
Risk rs540839115(A;A) Rs540839115(T;T)
Alt rs540839115(A;A) Rs540839115(T;T)
Reference Rs540839115(C;C)
Significance Pathogenic
Disease Spinocerebellar ataxia
Variation info
Gene UBA5 NPHP3-ACAD11
CLNDBN Spinocerebellar ataxia, autosomal recessive 24
Reversed 0
HGVS NC_000003.11:g.132390945C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000255643.3,