rs587781262
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs587781262(A;G) |
| Make rs587781262(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | X |
| Position | 107640938 |
| Gene | PRPS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587781262 |
| dbSNP (classic) | rs587781262 |
| ClinGen | rs587781262 |
| ebi | rs587781262 |
| HLI | rs587781262 |
| Exac | rs587781262 |
| Gnomad | rs587781262 |
| Varsome | rs587781262 |
| LitVar | rs587781262 |
| Map | rs587781262 |
| PheGenI | rs587781262 |
| Biobank | rs587781262 |
| 1000 genomes | rs587781262 |
| hgdp | rs587781262 |
| ensembl | rs587781262 |
| geneview | rs587781262 |
| scholar | rs587781262 |
| rs587781262 | |
| pharmgkb | rs587781262 |
| gwascentral | rs587781262 |
| openSNP | rs587781262 |
| 23andMe | rs587781262 |
| SNPshot | rs587781262 |
| SNPdbe | rs587781262 |
| MSV3d | rs587781262 |
| GWAS Ctlg | rs587781262 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs587781262(G;G) |
| Alt | rs587781262(G;G) |
| Reference | Rs587781262(A;A) |
| Significance | Pathogenic |
| Disease | Deafness Charcot-Marie-Tooth disease |
| Variation | info |
| Gene | PRPS1 |
| CLNDBN | Deafness, X-linked 1 Charcot-Marie-Tooth disease, X-linked recessive, type 5 |
| Reversed | 0 |
| HGVS | NC_000023.10:g.106884168A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000143858.1, RCV000143859.3, |
