rs760363252
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs760363252(C;T) |
| Make rs760363252(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 8 |
| Position | 144514441 |
| Gene | RECQL4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs760363252 |
| dbSNP (classic) | rs760363252 |
| ClinGen | rs760363252 |
| ebi | rs760363252 |
| HLI | rs760363252 |
| Exac | rs760363252 |
| Gnomad | rs760363252 |
| Varsome | rs760363252 |
| LitVar | rs760363252 |
| Map | rs760363252 |
| PheGenI | rs760363252 |
| Biobank | rs760363252 |
| 1000 genomes | rs760363252 |
| hgdp | rs760363252 |
| ensembl | rs760363252 |
| geneview | rs760363252 |
| scholar | rs760363252 |
| rs760363252 | |
| pharmgkb | rs760363252 |
| gwascentral | rs760363252 |
| openSNP | rs760363252 |
| 23andMe | rs760363252 |
| SNPshot | rs760363252 |
| SNPdbe | rs760363252 |
| MSV3d | rs760363252 |
| GWAS Ctlg | rs760363252 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs760363252(T;T) |
| Alt | rs760363252(T;T) |
| Reference | Rs760363252(C;C) |
| Significance | Pathogenic |
| Disease | Rothmund-Thomson syndrome |
| Variation | info |
| Gene | RECQL4 |
| CLNDBN | Rothmund-Thomson syndrome |
| Reversed | 0 |
| HGVS | NC_000008.10:g.145739825C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006450.3, |
