RHD
Rh blood group D antigen
Summary
The Rh blood group system is the second most clinically significant of the blood groups, second only to ABO. It is also the most polymorphic of the blood groups, with variations due to deletions, gene conversions, and missense mutations. The Rh blood group includes this gene, which encodes the RhD protein, and a second gene that encodes both the RhC and RhE antigens on a single polypeptide. The two genes, and a third unrelated gene, are found in a cluster on chromosome 1. The classification of Rh-positive and Rh-negative individuals is determined by the presence or absence of the highly immunogenic RhD protein on the surface of erythrocytes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs181829240 | 1:25,598,382 | C/A | upstream gene variant | — |
| rs61777606 | 1:25,606,164 | G/A | — | — |
| rs3866916 | 1:25,609,145 | A/G | intron variant | — |
| rs199509194 | 1:25,611,101 | G/T | — | no classification for the single variant |
| rs139501061 | 1:25,611,169 | C/T | — | likely benign |
| rs1248638537 | 1:25,611,185 | G/C | — | affects |
| rs121912762 | 1:25,611,244 | T/C | missense variant | pathogenic |
| rs530929152 | 1:25,617,137 | G/C | — | affects |
| rs188168550 | 1:25,617,162 | G/A | — | likely benign |
| rs113982491 | 1:25,617,206 | C/T | — | no classification for the single variant |
| rs879255550 | 1:25,617,248 | G/A | — | affects |
| rs17418085 | 1:25,617,251 | A/C | — | no classification for the single variant |
| rs113795383 | 1:25,617,291 | T/C | — | benign |
| rs28373042 | 1:25,617,681 | T/C | downstream gene variant | — |
| rs2986164 | 1:25,622,291 | G/T | — | — |
| rs557669853 | 1:25,622,510 | C/A | — | — |
| rs17421144 | 1:25,627,459 | T/C | — | no classification for the single variant |
| rs139508538 | 1:25,627,491 | C/G | — | uncertain significance |
| rs77813628 | 1:25,627,529 | G/A | — | benign |
| rs1465713698 | 1:25,627,540 | A/C | — | uncertain significance |
| rs1053355 | 1:25,627,552 | C/G | — | no classification for the single variant |
| rs1571667550 | 1:25,627,554 | G/A | — | no classification for the single variant |
| rs775528807 | 1:25,627,558 | C/T | — | uncertain significance |
| rs114032679 | 1:25,627,559 | G/A | — | benign |
| rs2124674196 | 1:25,627,561 | T/A | — | affects |
| rs1053356 | 1:25,628,043 | T/G | — | no classification for the single variant |
| rs756129923 | 1:25,628,047 | A/C | — | uncertain significance |
| rs1053359 | 1:25,628,073 | G/C | — | no classification for the single variant |
| rs2124675598 | 1:25,628,085 | G/A | — | affects |
| rs1053360 | 1:25,628,088 | G/A | missense variant | — |
| rs150073306 | 1:25,628,109 | G/C | — | no classification for the single variant |
| rs1053362 | 1:25,628,120 | C/T | — | likely benign |
| rs2522202663 | 1:25,628,161 | A/G | — | likely benign |
| rs769694058 | 1:25,628,171 | C/G | — | uncertain significance |
| rs121912763 | 1:25,629,820 | T/G | missense variant | pathogenic |
| rs142484009 | 1:25,629,856 | G/A | — | likely benign |
| rs590787 | 1:25,629,943 | A/G | missense variant | — |
| rs146292192 | 1:25,633,104 | G/A | — | likely benign |
| rs138235491 | 1:25,633,172 | T/C | — | no classification for the single variant |
| rs41307826 | 1:25,633,195 | G/C | — | benign |
| rs146093871 | 1:25,633,210 | G/A | — | risk factor |
| rs150059028 | 1:25,648,421 | G/A | — | likely benign |
| rs1644734959 | 1:25,648,451 | A/G | — | likely benign |
| rs181068505 | 1:25,650,632 | G/T | — | — |
| rs28744664 | 1:25,656,270 | G/A | intron variant | — |
| rs748033761 | 1:25,701,876 | C/T | — | no classification for the single variant |
Gene information from NCBI Gene. Variant classifications from ClinVar.