rs151344623
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a hyperinsulinemic hypoglycemia mutation |
| (G;G) | 0 | common in clinvar |
| Make rs151344623(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 17397055 |
| Gene | ABCC8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs151344623 |
| dbSNP (classic) | rs151344623 |
| ClinGen | rs151344623 |
| ebi | rs151344623 |
| HLI | rs151344623 |
| Exac | rs151344623 |
| Gnomad | rs151344623 |
| Varsome | rs151344623 |
| LitVar | rs151344623 |
| Map | rs151344623 |
| PheGenI | rs151344623 |
| Biobank | rs151344623 |
| 1000 genomes | rs151344623 |
| hgdp | rs151344623 |
| ensembl | rs151344623 |
| geneview | rs151344623 |
| scholar | rs151344623 |
| rs151344623 | |
| pharmgkb | rs151344623 |
| gwascentral | rs151344623 |
| openSNP | rs151344623 |
| 23andMe | rs151344623 |
| SNPshot | rs151344623 |
| SNPdbe | rs151344623 |
| MSV3d | rs151344623 |
| GWAS Ctlg | rs151344623 |
| Max Magnitude | 3 |
aka c.3992-9G>A
This variant is considered a founder mutation in Ashkenazi Jews, where the combined carrier frequency of this variant and rs151344624 is reported to be 1 in 52, giving an estimated frequency of homozygosity or compound heterozygosity of 1 in 10,816 in this population. The risk of focal CHI is 1 in 540 per pregnancy in offspring of carrier fathers because there can be somatic loss of heterozygosity causing the focal form of the disease.OMIM
| ClinVar | |
|---|---|
| Risk | rs151344623(A;A) rs151344623(C;C) |
| Alt | rs151344623(A;A) rs151344623(C;C) |
| Reference | Rs151344623(G;G) |
| Significance | Pathogenic |
| Disease | Persistent hyperinsulinemic hypoglycemia of infancy not provided |
| Variation | info |
| Gene | ABCC8 |
| CLNDBN | Persistent hyperinsulinemic hypoglycemia of infancy not provided |
| Reversed | 1 |
| HGVS | NC_000011.9:g.17418602C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009656.5, RCV000144995.1, |
