Table 3.
Summary of putatively novel causal variants identified in the discordant Omani samples.
Blood Group | Phenotype by Serology | Inferred Phenotype | Candidate Variants | Variant Effect | Allele Frequency | Number of Discrepancies |
---|---|---|---|---|---|---|
Lewis | Le(a+b+) | Le(a−b+) | rs373779096 | Amino acid change | 0.005 | 1 |
Lutheran | In(Lu) | Lu(a−b+) | rs533045163 and rs184739796 | GATA1 binding site | 0.005 and 0.005 | 1 |
MNS | S+s− | S+s+ | Dantu Structural variant | GYPA – GYPB copy number variation | 0.005 | 1 |
P1 | P2 | P1 | Chr22:42,721,266 (A4GALT, −289A>C) | STAT1 binding site | 0.01 | 1 |