rs193929377
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193929377(-;-) |
| Make rs193929377(-;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 27920326 |
| Gene | PDX1, PDX1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193929377 |
| dbSNP (classic) | rs193929377 |
| ClinGen | rs193929377 |
| ebi | rs193929377 |
| HLI | rs193929377 |
| Exac | rs193929377 |
| Gnomad | rs193929377 |
| Varsome | rs193929377 |
| LitVar | rs193929377 |
| Map | rs193929377 |
| PheGenI | rs193929377 |
| Biobank | rs193929377 |
| 1000 genomes | rs193929377 |
| hgdp | rs193929377 |
| ensembl | rs193929377 |
| geneview | rs193929377 |
| scholar | rs193929377 |
| rs193929377 | |
| pharmgkb | rs193929377 |
| gwascentral | rs193929377 |
| openSNP | rs193929377 |
| 23andMe | rs193929377 |
| SNPshot | rs193929377 |
| SNPdbe | rs193929377 |
| MSV3d | rs193929377 |
| GWAS Ctlg | rs193929377 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193929377(-;-) |
| Alt | rs193929377(-;-) |
| Reference | Rs193929377(C;C) |
| Significance | Pathogenic |
| Disease | Permanent neonatal diabetes mellitus |
| Variation | info |
| Gene | PDX1-AS1 PDX1 |
| CLNDBN | Permanent neonatal diabetes mellitus |
| Reversed | 0 |
| HGVS | NC_000013.10:g.28494463delC |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000020214.2, |
[PMID 9326926] Early-onset type-II diabetes mellitus (MODY4) linked to IPF1.
