rs193922402
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193922402(C;T) |
| Make rs193922402(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17395611 |
| Gene | ABCC8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922402 |
| dbSNP (classic) | rs193922402 |
| ClinGen | rs193922402 |
| ebi | rs193922402 |
| HLI | rs193922402 |
| Exac | rs193922402 |
| Gnomad | rs193922402 |
| Varsome | rs193922402 |
| LitVar | rs193922402 |
| Map | rs193922402 |
| PheGenI | rs193922402 |
| Biobank | rs193922402 |
| 1000 genomes | rs193922402 |
| hgdp | rs193922402 |
| ensembl | rs193922402 |
| geneview | rs193922402 |
| scholar | rs193922402 |
| rs193922402 | |
| pharmgkb | rs193922402 |
| gwascentral | rs193922402 |
| openSNP | rs193922402 |
| 23andMe | rs193922402 |
| SNPshot | rs193922402 |
| SNPdbe | rs193922402 |
| MSV3d | rs193922402 |
| GWAS Ctlg | rs193922402 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922402(T;T) |
| Alt | rs193922402(T;T) |
| Reference | Rs193922402(C;C) |
| Significance | Pathogenic |
| Disease | Familial hyperinsulinism Persistent hyperinsulinemic hypoglycemia of infancy |
| Variation | info |
| Gene | ABCC8 |
| CLNDBN | Familial hyperinsulinism Persistent hyperinsulinemic hypoglycemia of infancy |
| Reversed | 1 |
| HGVS | NC_000011.9:g.17417158G>A |
| CLNSRC | Counsyl |
| CLNACC | RCV000029264.1, RCV000169593.1, |
[PMID 9642650] Ions and genes in persistent hyperinsulinaemic hypoglycaemia in infancy: a commentary on the implications for tailoring treatment to disease pathogenesis.
