Table 2 Individual Neandertal SNPs with significant replicating phenotype associations.

Four locus-wise Bonferroni significant Neandertal 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). Chr, chromosome.

DiscoveryReplication
PhenotypeChr:position
(hg19)
SNPFlanking
gene(s)
Odds
ratio
POdds
ratio
P
Hypercoagulable
state
1:169593113rs3917862SELP3.329.9 × 10−73.005.0 × 10–10
Protein-calorie
malnutrition
1:234099819rs12049593SLC35F31.772.0 × 10−61.635.5 × 10−5
Symptoms involving
urinary system
11:3867350rs11030043RHOG, STIM11.767.4 × 10−61.654.3 × 10−2
Tobacco use
disorder
3:10962315rs901033SLC6A112.191.7 × 10−51.757.9 × 10−4