rs886039762
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs886039762(A;G) |
Make rs886039762(G;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 3 |
Position | 132675363 |
Gene | NPHP3-ACAD11, UBA5 |
is a | snp |
is | mentioned by |
dbSNP | rs886039762 |
dbSNP (classic) | rs886039762 |
ClinGen | rs886039762 |
ebi | rs886039762 |
HLI | rs886039762 |
Exac | rs886039762 |
Gnomad | rs886039762 |
Varsome | rs886039762 |
LitVar | rs886039762 |
Map | rs886039762 |
PheGenI | rs886039762 |
Biobank | rs886039762 |
1000 genomes | rs886039762 |
hgdp | rs886039762 |
ensembl | rs886039762 |
geneview | rs886039762 |
scholar | rs886039762 |
rs886039762 | |
pharmgkb | rs886039762 |
gwascentral | rs886039762 |
openSNP | rs886039762 |
23andMe | rs886039762 |
SNPshot | rs886039762 |
SNPdbe | rs886039762 |
MSV3d | rs886039762 |
GWAS Ctlg | rs886039762 |
Max Magnitude | 0 |
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, |