rs367543015
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs367543015(A;G) |
| Make rs367543015(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 90760145 |
| Gene | BLM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs367543015 |
| dbSNP (classic) | rs367543015 |
| ClinGen | rs367543015 |
| ebi | rs367543015 |
| HLI | rs367543015 |
| Exac | rs367543015 |
| Gnomad | rs367543015 |
| Varsome | rs367543015 |
| LitVar | rs367543015 |
| Map | rs367543015 |
| PheGenI | rs367543015 |
| Biobank | rs367543015 |
| 1000 genomes | rs367543015 |
| hgdp | rs367543015 |
| ensembl | rs367543015 |
| geneview | rs367543015 |
| scholar | rs367543015 |
| rs367543015 | |
| pharmgkb | rs367543015 |
| gwascentral | rs367543015 |
| openSNP | rs367543015 |
| 23andMe | rs367543015 |
| SNPshot | rs367543015 |
| SNPdbe | rs367543015 |
| MSV3d | rs367543015 |
| GWAS Ctlg | rs367543015 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs367543015(G;G) |
| Alt | rs367543015(G;G) |
| Reference | Rs367543015(A;A) |
| Significance | Pathogenic |
| Disease | Bloom syndrome |
| Variation | info |
| Gene | BLM |
| CLNDBN | Bloom syndrome |
| Reversed | 0 |
| HGVS | NC_000015.9:g.91303375A>G |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000034889.1, |
