Table 2. Individual Neanderthal SNPs with significant replicating phenotype associations.
Four locus-wise Bonferroni significant Neanderthal SNP-phenotype associations replicated (with a fixed effect P < 0.05 and consistent direction of effect). Nominally significant replicating results can be found in Table S3 and in the PheWAS Catalog (https://phewas.mc.vanderbilt.edu/neanderthal).
| Discovery | Replication | ||||||
|---|---|---|---|---|---|---|---|
| Phenotype | Chr: Position (hg19) | SNP | Flanking Gene(s) | Odds Ratio | P | Odds Ratio | P |
| Hypercoagulable state | 1:169593113 | rs3917862 | SELP | 3.32 | 9.9E–7 | 3.00 | 5.0E–10 |
|
| |||||||
| Protein-calorie malnutrition | 1:234099819 | rs12049593 | SLC35F3 | 1.77 | 2.0E–6 | 1.63 | 5.5E–5 |
|
| |||||||
| Symptoms involving urinary system | 11:3867350 | rs11030043 | RHOG, STIM1 | 1.76 | 7.4E–6 | 1.65 | 4.3E–2 |
|
| |||||||
| Tobacco use disorder | 3:10962315 | rs901033 | SLC6A11 | 2.19 | 1.7E–5 | 1.75 | 7.9E–4 |