rs540839115

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/149

Chromosome

3

Position

132672101

Gene	NPHP3-ACAD11, UBA5

is a	snp
is	mentioned by
dbSNP	rs540839115
dbSNP (classic)	rs540839115
ClinGen	rs540839115
ebi	rs540839115
HLI	rs540839115
Exac	rs540839115
Gnomad	rs540839115
Varsome	rs540839115
LitVar	rs540839115
Map	rs540839115
PheGenI	rs540839115
Biobank	rs540839115
1000 genomes	rs540839115
hgdp	rs540839115
ensembl	rs540839115
geneview	rs540839115
scholar	rs540839115
google	rs540839115
pharmgkb	rs540839115
gwascentral	rs540839115
openSNP	rs540839115
23andMe	rs540839115
SNPshot	rs540839115
SNPdbe	rs540839115
MSV3d	rs540839115
GWAS Ctlg	rs540839115

Max Magnitude

6.9

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,