Table 1 Summary of clinical findings and mutation information in the study cohort

From: GWAS signals revisited using human knockouts

Gene

GWAS phenotype

GWAS SNP ( P value)

GWAS reference

Index ID

Mutation

MAF ExAC

MAF internal

KO phenotype

TRAF3IP2

Psoriasis vulgaris

rs33980500 (1x10-23) rs33980500 (1x10-20)

PMID:26626624 PMID:20953186

16DG0333

NM_147686.3:c.488_492delTACCT:p.(Leu163*)

0.0

0.0

Mendelian severe form of eczema, high IgE and macrocephaly

 

Psoriatic arthritis

rs33980500 (1x10-17)

PMID:26626624

     
 

Psoriasis

rs33980500 (1x10-16) rs458017 (2x10-16)

PMID:20953188 PMID:20953190

     
 

Ulcerative colitis

rs3851228 (1 x10-14)

PMID:26192919

     
 

Crohn disease

rs3851228 (3 x10-8)

PMID:26192919

     
 

Schizophrenia

rs6568685 (7X10-7)

PMID:26198764

     

FRMD3

Lewy body disease

rs1570582 (2x10-6) rs1570582 (9x10-6)

PMID: 25188341

15DG2538

NM_001244962.1:c.70C>T:p.(Arg24*)

0.00004160 (6 HET)

0.0

Echogenic nonfunctioning kidneys, anhydramnios, early neonatal death

RSRC1

Height

rs2362965 (2x10-9)

PMID: 23563607

16DG1196

NM_016625.3:c.268C>T:p.(Arg90*)

0.0

0.0

Intellectual disability

 

Subjective well-being

rs6787172 (4x10-6) rs1714507 (9x10-6)

PMID: 27089181

     

BTBD9

Restless legs syndrome

rs9357271 (8x10-22) rs9296249 (4x10-18) rs3923809 (1x10-17)

PMID:21779176 PMID:21779176 PMID:17634447

14DG0470

NM_001172418.1:c.1015C>T:p.(Arg339*)

0.00005141 (8HET)

0.0004 (1 HET)

Lethal myopathy

 

Postbronchodilator FEV1/FVC ratio in COPD

rs114407411 (2x10-7) rs192452148 (2x10-7) rs150713181 (4x10-7) rs77928651 (1x10-6) rs139632137 (2x10-6)

PMID:26634245

     
 

Mammographic density

rs4565302 (5x10-6)

PMID:25353672

     

PXDNL

Mild influenza (H1N1) infection

rs201466262 (2x10-8)

PMID: 26379185

15DG2011

NM_144651.4:c.695-2A>T

0.00000819 (2 HET)

0.0

Intellectual disability, nystagmus, subtle facial dysmorphism, and interhemispheric cyst

 

Neuritic plaque

rs62506864 (5x10-6)

PMID: 25188341

     
 

Tuberculosis

rs7821565 (8x10-6)

PMID: 20694014

     
  1. ExAC, Exome Aggregation Consortium; COPD, chronic obstructive pulmonary disease; GWAS, genome-wide association studies; KO, knockout; MAF, minor allele frequency; SNP, single-nucleotide polymorphism.
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