rs869312685
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs869312685(A;A) |
Make rs869312685(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 3 |
Position | 4815135 |
Gene | ITPR1 |
is a | snp |
is | mentioned by |
dbSNP | rs869312685 |
dbSNP (classic) | rs869312685 |
ClinGen | rs869312685 |
ebi | rs869312685 |
HLI | rs869312685 |
Exac | rs869312685 |
Gnomad | rs869312685 |
Varsome | rs869312685 |
LitVar | rs869312685 |
Map | rs869312685 |
PheGenI | rs869312685 |
Biobank | rs869312685 |
1000 genomes | rs869312685 |
hgdp | rs869312685 |
ensembl | rs869312685 |
geneview | rs869312685 |
scholar | rs869312685 |
rs869312685 | |
pharmgkb | rs869312685 |
gwascentral | rs869312685 |
openSNP | rs869312685 |
23andMe | rs869312685 |
SNPshot | rs869312685 |
SNPdbe | rs869312685 |
MSV3d | rs869312685 |
GWAS Ctlg | rs869312685 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312685(A;A) rs869312685(C;C) |
Alt | rs869312685(A;A) rs869312685(C;C) |
Reference | Rs869312685(G;G) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 15 Spinocerebellar ataxia 29 |
Variation | info |
Gene | ITPR1 |
CLNDBN | Spinocerebellar ataxia 15 Spinocerebellar ataxia 29 |
Reversed | 0 |
HGVS | NC_000003.11:g.4856819G>A; NC_000003.11:g.4856819G>C |
CLNSRC | |
CLNACC | RCV000209834.1, RCV000235044.1, |