rs121912763
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs121912763(G;G) |
| Make rs121912763(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 25303329 |
| Gene | RHD, RSRP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912763 |
| dbSNP (classic) | rs121912763 |
| ClinGen | rs121912763 |
| ebi | rs121912763 |
| HLI | rs121912763 |
| Exac | rs121912763 |
| Gnomad | rs121912763 |
| Varsome | rs121912763 |
| LitVar | rs121912763 |
| Map | rs121912763 |
| PheGenI | rs121912763 |
| Biobank | rs121912763 |
| 1000 genomes | rs121912763 |
| hgdp | rs121912763 |
| ensembl | rs121912763 |
| geneview | rs121912763 |
| scholar | rs121912763 |
| rs121912763 | |
| pharmgkb | rs121912763 |
| gwascentral | rs121912763 |
| openSNP | rs121912763 |
| 23andMe | rs121912763 |
| SNPshot | rs121912763 |
| SNPdbe | rs121912763 |
| MSV3d | rs121912763 |
| GWAS Ctlg | rs121912763 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121912763(G;G) |
| Alt | rs121912763(G;G) |
| Reference | Rs121912763(T;T) |
| Significance | Pathogenic |
| Disease | Rhd |
| Variation | info |
| Gene | RHD RSRP1 |
| CLNDBN | Rhd, weak d, type I |
| Reversed | 0 |
| HGVS | NC_000001.10:g.25629820T>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019287.27, |
rs121912763 is a polymorphism in the RHD gene known as weak Rh D, and formerly known as D(u).
A total of 16 different molecular weak D types plus 2 alleles characteristic of partial D have been identified. Most, if not all, weak D phenotypes carry altered RhD proteins, suggesting a causal relationship. Genotyping of weak D may guide Rhesus-negative transfusion policy for such molecular weak D types that were prone to develop anti-D, and who risk transfusion reactions if transfused with Rh D positive blood.
