rs515726149
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs515726149(A;A) |
| Make rs515726149(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 5 |
| Position | 68296248 |
| Gene | PIK3R1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs515726149 |
| dbSNP (classic) | rs515726149 |
| ClinGen | rs515726149 |
| ebi | rs515726149 |
| HLI | rs515726149 |
| Exac | rs515726149 |
| Gnomad | rs515726149 |
| Varsome | rs515726149 |
| LitVar | rs515726149 |
| Map | rs515726149 |
| PheGenI | rs515726149 |
| Biobank | rs515726149 |
| 1000 genomes | rs515726149 |
| hgdp | rs515726149 |
| ensembl | rs515726149 |
| geneview | rs515726149 |
| scholar | rs515726149 |
| rs515726149 | |
| pharmgkb | rs515726149 |
| gwascentral | rs515726149 |
| openSNP | rs515726149 |
| 23andMe | rs515726149 |
| SNPshot | rs515726149 |
| SNPdbe | rs515726149 |
| MSV3d | rs515726149 |
| GWAS Ctlg | rs515726149 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs515726149(A;A) |
| Alt | rs515726149(A;A) |
| Reference | Rs515726149(G;G) |
| Significance | Pathogenic |
| Disease | SHORT syndrome |
| Variation | info |
| Gene | PIK3R1 |
| CLNDBN | SHORT syndrome |
| Reversed | 0 |
| HGVS | NC_000005.9:g.67592076G>A |
| CLNSRC | |
| CLNACC | RCV000202555.1, |
