rs863224882
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863224882(G;T) |
Make rs863224882(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 4645703 |
Gene | ITPR1 |
is a | snp |
is | mentioned by |
dbSNP | rs863224882 |
dbSNP (classic) | rs863224882 |
ClinGen | rs863224882 |
ebi | rs863224882 |
HLI | rs863224882 |
Exac | rs863224882 |
Gnomad | rs863224882 |
Varsome | rs863224882 |
LitVar | rs863224882 |
Map | rs863224882 |
PheGenI | rs863224882 |
Biobank | rs863224882 |
1000 genomes | rs863224882 |
hgdp | rs863224882 |
ensembl | rs863224882 |
geneview | rs863224882 |
scholar | rs863224882 |
rs863224882 | |
pharmgkb | rs863224882 |
gwascentral | rs863224882 |
openSNP | rs863224882 |
23andMe | rs863224882 |
SNPshot | rs863224882 |
SNPdbe | rs863224882 |
MSV3d | rs863224882 |
GWAS Ctlg | rs863224882 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224882(T;T) |
Alt | rs863224882(T;T) |
Reference | Rs863224882(G;G) |
Significance | Probable-Pathogenic |
Disease | Spinocerebellar ataxia 29 |
Variation | info |
Gene | ITPR1 |
CLNDBN | Spinocerebellar ataxia 29 |
Reversed | 0 |
HGVS | NC_000003.11:g.4687387G>T |
CLNSRC | |
CLNACC | RCV000198932.1, |