rs2233578
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs2233578(C;T) |
| Make rs2233578(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 7 |
| Position | 127614497 |
| Gene | PAX4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2233578 |
| dbSNP (classic) | rs2233578 |
| ClinGen | rs2233578 |
| ebi | rs2233578 |
| HLI | rs2233578 |
| Exac | rs2233578 |
| Gnomad | rs2233578 |
| Varsome | rs2233578 |
| LitVar | rs2233578 |
| Map | rs2233578 |
| PheGenI | rs2233578 |
| Biobank | rs2233578 |
| 1000 genomes | rs2233578 |
| hgdp | rs2233578 |
| ensembl | rs2233578 |
| geneview | rs2233578 |
| scholar | rs2233578 |
| rs2233578 | |
| pharmgkb | rs2233578 |
| gwascentral | rs2233578 |
| openSNP | rs2233578 |
| 23andMe | rs2233578 |
| SNPshot | rs2233578 |
| SNPdbe | rs2233578 |
| MSV3d | rs2233578 |
| GWAS Ctlg | rs2233578 |
| GMAF | 0.02433 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2233578(T;T) |
| Alt | rs2233578(T;T) |
| Reference | Rs2233578(C;C) |
| Significance | Other |
| Disease | Diabetes mellitus not specified Maturity-onset diabetes of the young Monogenic diabetes |
| Variation | info |
| Gene | PAX4 |
| CLNDBN | Diabetes mellitus, ketosis-prone, susceptibility to not specified Maturity-onset diabetes of the young Monogenic diabetes |
| Reversed | 1 |
| HGVS | NC_000007.13:g.127254551G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000014801.2, RCV000117891.2, RCV000397400.1, RCV000445408.1, |
