rs148969222
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs148969222(G;T) |
| Make rs148969222(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 90803721 |
| Gene | BLM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148969222 |
| dbSNP (classic) | rs148969222 |
| ClinGen | rs148969222 |
| ebi | rs148969222 |
| HLI | rs148969222 |
| Exac | rs148969222 |
| Gnomad | rs148969222 |
| Varsome | rs148969222 |
| LitVar | rs148969222 |
| Map | rs148969222 |
| PheGenI | rs148969222 |
| Biobank | rs148969222 |
| 1000 genomes | rs148969222 |
| hgdp | rs148969222 |
| ensembl | rs148969222 |
| geneview | rs148969222 |
| scholar | rs148969222 |
| rs148969222 | |
| pharmgkb | rs148969222 |
| gwascentral | rs148969222 |
| openSNP | rs148969222 |
| 23andMe | rs148969222 |
| SNPshot | rs148969222 |
| SNPdbe | rs148969222 |
| MSV3d | rs148969222 |
| GWAS Ctlg | rs148969222 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148969222(A;A) rs148969222(T;T) |
| Alt | rs148969222(A;A) rs148969222(T;T) |
| Reference | Rs148969222(G;G) |
| Significance | Other |
| Disease | Bloom syndrome |
| Variation | info |
| Gene | BLM |
| CLNDBN | Bloom syndrome |
| Reversed | 0 |
| HGVS | NC_000015.9:g.91346951G>A; NC_000015.9:g.91346951G>T |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000034911.1, RCV000205550.3, |
