rs1048095
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 4 | Reported to be associated with permanent neonatal diabetes mellitus |
| (T;T) | 0 | common in clinvar |
| Make rs1048095(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17461731 |
| Gene | ABCC8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1048095 |
| dbSNP (classic) | rs1048095 |
| ClinGen | rs1048095 |
| ebi | rs1048095 |
| HLI | rs1048095 |
| Exac | rs1048095 |
| Gnomad | rs1048095 |
| Varsome | rs1048095 |
| LitVar | rs1048095 |
| Map | rs1048095 |
| PheGenI | rs1048095 |
| Biobank | rs1048095 |
| 1000 genomes | rs1048095 |
| hgdp | rs1048095 |
| ensembl | rs1048095 |
| geneview | rs1048095 |
| scholar | rs1048095 |
| rs1048095 | |
| pharmgkb | rs1048095 |
| gwascentral | rs1048095 |
| openSNP | rs1048095 |
| 23andMe | rs1048095 |
| SNPshot | rs1048095 |
| SNPdbe | rs1048095 |
| MSV3d | rs1048095 |
| GWAS Ctlg | rs1048095 |
| Max Magnitude | 4 |
rs1048095, also known as L225P, Leu225Pro and 674T>C, is a rare variant in the ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ABCC8 gene.
Heterozygous carriers for this SNP are reported to have permanent neonatal diabetes mellitus (PNDM). It was also reported that patients have been successfully treated with oral sulfonylureas.[PMID 17317760]
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1048095(C;C) |
| Alt | rs1048095(C;C) |
| Reference | Rs1048095(T;T) |
| Significance | Pathogenic |
| Disease | Permanent neonatal diabetes mellitus |
| Variation | info |
| Gene | ABCC8 |
| CLNDBN | Permanent neonatal diabetes mellitus |
| Reversed | 1 |
| HGVS | NC_000011.9:g.17483278A>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000020291.1, |
[PMID 16885549] Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
