rs55758736
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 0 | Likely benign according to ClinVar |
| (G;G) | 0 | common in clinvar |
| Make rs55758736(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 11548067 |
| Gene | BLK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs55758736 |
| dbSNP (classic) | rs55758736 |
| ClinGen | rs55758736 |
| ebi | rs55758736 |
| HLI | rs55758736 |
| Exac | rs55758736 |
| Gnomad | rs55758736 |
| Varsome | rs55758736 |
| LitVar | rs55758736 |
| Map | rs55758736 |
| PheGenI | rs55758736 |
| Biobank | rs55758736 |
| 1000 genomes | rs55758736 |
| hgdp | rs55758736 |
| ensembl | rs55758736 |
| geneview | rs55758736 |
| scholar | rs55758736 |
| rs55758736 | |
| pharmgkb | rs55758736 |
| gwascentral | rs55758736 |
| openSNP | rs55758736 |
| 23andMe | rs55758736 |
| SNPshot | rs55758736 |
| SNPdbe | rs55758736 |
| MSV3d | rs55758736 |
| GWAS Ctlg | rs55758736 |
| GMAF | 0.0101 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs55758736(A;A) |
| Alt | rs55758736(A;A) |
| Reference | Rs55758736(G;G) |
| Significance | Other |
| Disease | Maturity-onset diabetes of the young not specified Maturity-onset diabetes of the young Monogenic diabetes |
| Variation | info |
| Gene | BLK |
| CLNDBN | Maturity-onset diabetes of the young, type 11 not specified Maturity-onset diabetes of the young Monogenic diabetes |
| Reversed | 0 |
| HGVS | NC_000008.10:g.11405576G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000013112.22, RCV000116496.2, RCV000379716.1, RCV000445395.1, |
[PMID 22696686
] Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.
