rs193929380
From SNPedia
| Merged into | rs80356663 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193929380(A;A) |
| Make rs193929380(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2160901 |
| Gene | INS, SIT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193929380 |
| dbSNP (classic) | rs193929380 |
| ClinGen | rs193929380 |
| ebi | rs193929380 |
| HLI | rs193929380 |
| Exac | rs193929380 |
| Gnomad | rs193929380 |
| Varsome | rs193929380 |
| LitVar | rs193929380 |
| Map | rs193929380 |
| PheGenI | rs193929380 |
| Biobank | rs193929380 |
| 1000 genomes | rs193929380 |
| hgdp | rs193929380 |
| ensembl | rs193929380 |
| geneview | rs193929380 |
| scholar | rs193929380 |
| rs193929380 | |
| pharmgkb | rs193929380 |
| gwascentral | rs193929380 |
| openSNP | rs193929380 |
| 23andMe | rs193929380 |
| SNPshot | rs193929380 |
| SNPdbe | rs193929380 |
| MSV3d | rs193929380 |
| GWAS Ctlg | rs193929380 |
| Status | Merged into rs80356663 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193929380(A;A) |
| Alt | rs193929380(A;A) |
| Reference | Rs193929380(C;C) |
| Significance | Pathogenic |
| Disease | Permanent neonatal diabetes mellitus |
| Variation | info |
| Gene | |
| CLNDBN | Permanent neonatal diabetes mellitus |
| Reversed | 1 |
| HGVS | NC_000011.9:g.2182131G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | SCV000034569.1, |
[PMID 17047922] Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.
[PMID 18171712] Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.
