Table 1. VNTRs within protein-coding sequences affect diverse human phenotypes.

For each of five protein-altering VNTRs involved in phenotype associations that passed stringent fine-mapping criteria, P-values (in linear mixed model analyses of N=415,280 unrelated UKB participants of European ancestry) and estimated effect-size ranges (across the longest and shortest alleles sufficiently common to be amenable to our computational analysis) are listed for the most-strongly associated phenotype. aa, amino acids.

Gene	Cytoband	Repeat unit size	Repeat count (EUR)	Protein domain (effect)	Phenotype	Effect range (± s.e.)	P-value
LPA	6q25.3-q26	~5.6kb (114aa, 2 exons)	2-40	Kringle-IV (number)	Lipoprotein(a) concentration	5.1 (± 0.5) s.d.(= 233 ± 23 nmol/L)	4.4 x 10−(25,121)
ACAN	15q26.1	57bp (19aa)	13-44	Chondroitin sulfate (size)	Height	0.49 (± 0.04) s.d.(= 3.2 ± 0.3 cm)	1.7 x 10−234
TENT5A	6q14.1	15bp (5aa)	2-7	Unknown (size)	Height	0.09 (± 0.01) s.d.(= 0.6 ± 0.1 cm)	2.5 x 10−53
MUC1	1q22	60bp (20aa)	20-125	Extracellular (size)	Serum urea	0.16 (± 0.01) s.d.(= 0.22 ± 0.01 mmol/L)	2.7 x 10−163
TCHH	1q21.3	18bp (6aa)	5-15	α-helix rod (size)	Male pattern baldness score	−0.063 (± 0.006) s.d.	1.6 x 10−55