Table 3 Statistically significant associations from the mixed ancestry analysis.

From: Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts

Gene

Lead model

Lead phenotype

UKB carrier n (%)a

UKB p value

HNP carrier n (%)a

HNP p value

Meta p value

Eur carrier n (%)a,b

Eur p valueb

UGT1A1

Coding

Total bilirubin

90 (0.19%)

3.4 × 10−14

19 (0.15%)

1.5 × 10−2

4.3 × 10−15

77 (0.16%)

5.5 × 10−9

FCGRT

Coding

Albumin

72 (0.16%)

4.9 × 10−12

28 (0.22%)

2.4 × 10−2

8.5 × 10−13

72 (0.16%)

9.2 × 10−8

TMPRSS6

Coding

Mean corpuscular haemoglobin

389 (0.8%)

1.5 × 10−11

105 (0.78%)

5.0 × 10−2

5.8 × 10−12

369 (0.73%)

6.3 × 10−9

SLCO1B3

Coding

Total bilirubin

531 (1.14%)

6.7 × 10−10

135 (1.06%)

1.6 × 10−2

4.5 × 10−11

574 (1.18%)

1.4 × 10−8

OCA2

Coding

Hair colour: Blonde

32 (0.61%)/65 (0.15%)a

1.5 × 10−14

   

31 (0.66%)/46 (0.13%)a

2.5 × 10−15c

TYRP1

Coding

Hair colour: Blonde

65 (1.24%)/231 (0.52%)a

3.4 × 10−12

   

55 (1.18%)/180 (0.5%)a

6.6 × 10−9

SEC23B

Coding

Red blood cell distribution width

341 (0.7%)

1.9 × 10−10

   

279 (0.71%)

3.4 × 10−10

  1. All results shown are from the LMM with all ethnicities. When multiple phenotypes and/or models (coding, LoF) were significantly associated with a gene, only the lead phenotype and model are shown. All results can be found in Supplementary Data 2
  2. aFor binary traits, the information shown is case n (%)/ctrl n (%)
  3. bEur carrier and Eur p value columns: For the phenotypes measured in both cohorts, the European meta-analysis values are shown. For the phenotypes measured only in UKB (blank for HNP), the UKB Eur values are shown
  4. cWhile OCA2 was significantly associated with hair colour in the European ancestry subset, that subset had only nine expected case carriers, and so it failed our screening. In the Fisher’s exact test in unrelated individuals with no carrier cutoff, the p value is 1.3 × 10−8