rs587777235
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(CT;CT) | 0 | common in clinvar |
(G;G) | 0 | common in clinvar |
Make rs587777235(-;-) |
Make rs587777235(-;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 197676907 |
Gene | RUBCN |
is a | snp |
is | mentioned by |
dbSNP | rs587777235 |
dbSNP (classic) | rs587777235 |
ClinGen | rs587777235 |
ebi | rs587777235 |
HLI | rs587777235 |
Exac | rs587777235 |
Gnomad | rs587777235 |
Varsome | rs587777235 |
LitVar | rs587777235 |
Map | rs587777235 |
PheGenI | rs587777235 |
Biobank | rs587777235 |
1000 genomes | rs587777235 |
hgdp | rs587777235 |
ensembl | rs587777235 |
geneview | rs587777235 |
scholar | rs587777235 |
rs587777235 | |
pharmgkb | rs587777235 |
gwascentral | rs587777235 |
openSNP | rs587777235 |
23andMe | rs587777235 |
SNPshot | rs587777235 |
SNPdbe | rs587777235 |
MSV3d | rs587777235 |
GWAS Ctlg | rs587777235 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | Rs587777235(G;G) rs587777235(-;-) |
Alt | Rs587777235(G;G) rs587777235(-;-) |
Reference | Rs587777235(C;C) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | RUBCN KIAA0226 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 15 |
Reversed | 1 |
HGVS | NC_000003.11:g.197403778delG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000106316.3, |