Table 3. Donor and recipient genotype distribution of TREM1 single nucleotide variants.
HGVS (rs number) | Phenotype (SNVinfo) | A/a | 1000Genomes | Donor1 |
Recipient1 |
P2 | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
MAF | A/A | A/a | a/a | MAF | A/A | A/a | a/a | MAF | ||||
p.Thr25Ser (rs2234237) | Unknown (benign5) | A/t | 0.0803 | 0.845 | 0.155 | 0.000 | 0.078 | 0.836 | 0.159 | 0.005 | 0.085 | 0.8 |
p.Phe214Leu (rs2234245) | Unknown (benign5) | G/c | 0.0284 | 0.999 | 0.001 | 0.000 | 0.001 | 1.000 | 0.000 | 0.000 | 0.000 | 1 |
1Donor and recipient genotype are displayed as homyzgous dominant (A/A), heterozygous (A/a) or homozygous recessive (a/a). MAF = minor allele frequency.
2P-value for logistic regression between donor and recipient allele frequencies in a genetic additive model, adjusted for age and donor-recipient relatedness (DFAM algorithm).
3HapMap-CEU population.
4Overall 1000 Genomes population.
5Predicted benign by Polyphen (most likely lacking a phenotypical effect).