rs397514536
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs397514536(A;G) |
Make rs397514536(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 4667467 |
Gene | ITPR1 |
is a | snp |
is | mentioned by |
dbSNP | rs397514536 |
dbSNP (classic) | rs397514536 |
ClinGen | rs397514536 |
ebi | rs397514536 |
HLI | rs397514536 |
Exac | rs397514536 |
Gnomad | rs397514536 |
Varsome | rs397514536 |
LitVar | rs397514536 |
Map | rs397514536 |
PheGenI | rs397514536 |
Biobank | rs397514536 |
1000 genomes | rs397514536 |
hgdp | rs397514536 |
ensembl | rs397514536 |
geneview | rs397514536 |
scholar | rs397514536 |
rs397514536 | |
pharmgkb | rs397514536 |
gwascentral | rs397514536 |
openSNP | rs397514536 |
23andMe | rs397514536 |
SNPshot | rs397514536 |
SNPdbe | rs397514536 |
MSV3d | rs397514536 |
GWAS Ctlg | rs397514536 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514536(G;G) |
Alt | rs397514536(G;G) |
Reference | Rs397514536(A;A) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 29 |
Variation | info |
Gene | ITPR1 |
CLNDBN | Spinocerebellar ataxia 29 |
Reversed | 0 |
HGVS | NC_000003.11:g.4709151A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000032772.27, |