rs121912762
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | Rh factor D(VII); see explanation |
| (C;T) | 2 | Rh factor D(VII); see explanation |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 25284753 |
| Gene | RHD, RSRP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912762 |
| dbSNP (classic) | rs121912762 |
| ClinGen | rs121912762 |
| ebi | rs121912762 |
| HLI | rs121912762 |
| Exac | rs121912762 |
| Gnomad | rs121912762 |
| Varsome | rs121912762 |
| LitVar | rs121912762 |
| Map | rs121912762 |
| PheGenI | rs121912762 |
| Biobank | rs121912762 |
| 1000 genomes | rs121912762 |
| hgdp | rs121912762 |
| ensembl | rs121912762 |
| geneview | rs121912762 |
| scholar | rs121912762 |
| rs121912762 | |
| pharmgkb | rs121912762 |
| gwascentral | rs121912762 |
| openSNP | rs121912762 |
| 23andMe | rs121912762 |
| SNPshot | rs121912762 |
| SNPdbe | rs121912762 |
| MSV3d | rs121912762 |
| GWAS Ctlg | rs121912762 |
| Max Magnitude | 2 |
rs121912762, also known as Leu110Pro, represents an important SNP in the rhesus factor RHD gene.
As reported in several publications, such as [PMID 7741145], the rs121912762(C) allele leads to a lack of epD8 and the expression of the low frequency antigen Rh40. The result of this a rare Rh-positive variant known as D(VII). RHD D(VII) individuals will be typed as Rh+, yet they can develop anti-D antibodies following immunization by pregnancy or transfusion.
See also: OMIM 111680.0002
| ClinVar | |
|---|---|
| Risk | Rs121912762(C;C) |
| Alt | Rs121912762(C;C) |
| Reference | Rs121912762(T;T) |
| Significance | Pathogenic |
| Disease | Rhd category d-vii |
| Variation | info |
| Gene | RHD RSRP1 |
| CLNDBN | Rhd category d-vii |
| Reversed | 0 |
| HGVS | NC_000001.10:g.25611244T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019286.23, |
