rs2227935
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs2227935(C;C) |
| Make rs2227935(C;T) |
| Make rs2227935(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 90782869 |
| Gene | BLM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2227935 |
| dbSNP (classic) | rs2227935 |
| ClinGen | rs2227935 |
| ebi | rs2227935 |
| HLI | rs2227935 |
| Exac | rs2227935 |
| Gnomad | rs2227935 |
| Varsome | rs2227935 |
| LitVar | rs2227935 |
| Map | rs2227935 |
| PheGenI | rs2227935 |
| Biobank | rs2227935 |
| 1000 genomes | rs2227935 |
| hgdp | rs2227935 |
| ensembl | rs2227935 |
| geneview | rs2227935 |
| scholar | rs2227935 |
| rs2227935 | |
| pharmgkb | rs2227935 |
| gwascentral | rs2227935 |
| openSNP | rs2227935 |
| 23andMe | rs2227935 |
| SNPshot | rs2227935 |
| SNPdbe | rs2227935 |
| MSV3d | rs2227935 |
| GWAS Ctlg | rs2227935 |
| Merged from | Rs11852361 |
| GMAF | 0.05326 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2227935(G;G) rs2227935(T;T) |
| Alt | rs2227935(G;G) rs2227935(T;T) |
| Reference | rs2227935(C;C) |
| Significance | Other |
| Disease | not specified Bloom syndrome |
| Variation | info |
| Gene | BLM |
| CLNDBN | not specified Bloom syndrome |
| Reversed | 0 |
| HGVS | NC_000015.9:g.91326099C>T |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000078058.9, RCV000144575.2, |
