rs137852318
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 5 | G6PD deficiency |
| (C;G) | 3 | Carrier of G6PD deficiency mutation; variable expressivity |
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of G6PD deficiency mutation; variable expressivity |
| (T;T) | 5 | G6PD deficiency |
| Reference | GRCh38 38.1/142 |
| Chromosome | X |
| Position | 154533596 |
| Gene | G6PD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852318 |
| dbSNP (classic) | rs137852318 |
| ClinGen | rs137852318 |
| ebi | rs137852318 |
| HLI | rs137852318 |
| Exac | rs137852318 |
| Gnomad | rs137852318 |
| Varsome | rs137852318 |
| LitVar | rs137852318 |
| Map | rs137852318 |
| PheGenI | rs137852318 |
| Biobank | rs137852318 |
| 1000 genomes | rs137852318 |
| hgdp | rs137852318 |
| ensembl | rs137852318 |
| geneview | rs137852318 |
| scholar | rs137852318 |
| rs137852318 | |
| pharmgkb | rs137852318 |
| gwascentral | rs137852318 |
| openSNP | rs137852318 |
| 23andMe | rs137852318 |
| SNPshot | rs137852318 |
| SNPdbe | rs137852318 |
| MSV3d | rs137852318 |
| GWAS Ctlg | rs137852318 |
| Max Magnitude | 5 |
Known as G6PD Seattle-like and also G6PD Modena, the cDNA minor allele (C on the reverse strand) should be reclassified as benign according to [PMID 26990548
], apparently based on overly high "frequency in the general population", without any specific evidence cited.
However, at least in one large population database (ExAC), the frequency of this minor allele appears to be very low (0.00084, based on 73 alleles observed in ~87,000 sequenced). Overall, while the minor allele is reported to lead to a mild phenotype, for the moment it continues to be reported in ClinVar, OMIM and here as a pathogenic variant.
Additional terms for this variant include c.934G>C, p.Asp312His, Asp282His, D312H, and D282H.
23andMe name (for the C>A variant): i6010520
| ClinVar | |
|---|---|
| Risk | rs137852318(A;A) Rs137852318(C;C) |
| Alt | rs137852318(A;A) Rs137852318(C;C) |
| Reference | Rs137852318(G;G) |
| Significance | Other |
| Disease | G6PD SEATTLE-LIKE G6PD MODENA not provided Anemia |
| Variation | info |
| Gene | G6PD |
| CLNDBN | G6PD SEATTLE-LIKE G6PD MODENA not provided Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153761811C>G |
| CLNSRC | HGMD OMIM Allelic Variant |
| CLNACC | RCV000011092.3, RCV000011093.3, RCV000079413.3, RCV000180200.2, |
