rs1042695
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1042695(G;G) |
| Make rs1042695(G;T) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 8 |
| Position | 11564446 |
| Gene | BLK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042695 |
| dbSNP (classic) | rs1042695 |
| ClinGen | rs1042695 |
| ebi | rs1042695 |
| HLI | rs1042695 |
| Exac | rs1042695 |
| Gnomad | rs1042695 |
| Varsome | rs1042695 |
| LitVar | rs1042695 |
| Map | rs1042695 |
| PheGenI | rs1042695 |
| Biobank | rs1042695 |
| 1000 genomes | rs1042695 |
| hgdp | rs1042695 |
| ensembl | rs1042695 |
| geneview | rs1042695 |
| scholar | rs1042695 |
| rs1042695 | |
| pharmgkb | rs1042695 |
| gwascentral | rs1042695 |
| openSNP | rs1042695 |
| 23andMe | rs1042695 |
| SNPshot | rs1042695 |
| SNPdbe | rs1042695 |
| MSV3d | rs1042695 |
| GWAS Ctlg | rs1042695 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1042695(G;G) |
| Alt | rs1042695(G;G) |
| Reference | Rs1042695(T;T) |
| Significance | Pathogenic |
| Disease | Maturity-onset diabetes of the young Maturity-onset diabetes of the young |
| Variation | info |
| Gene | BLK |
| CLNDBN | Maturity-onset diabetes of the young, type 11 Maturity-onset diabetes of the young |
| Reversed | 0 |
| HGVS | NC_000008.10:g.11421955T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013113.16, RCV000358507.1, |
