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. 2019 Nov 6;28(4):499–507. doi: 10.1038/s41431-019-0526-y

Table 2.

eQTN for genes showing the strongest evidence of differential expression between affected and unaffected-relatives subjects for the phenotype specific to each linked region

Linked region Affected phenotype SNP Gene expression ORj P nominal #SNPs Bonfk Location
3q21 CL rs2877822:C > Ta ITGB5 0.87 0.0370 16 0.592 intron 2 MUC13
rs10934702:C > Tb ITGB5 0.81 0.0048 0.077 0.5 kB 5′ MUC13
4q34 BD rs13130930:C > Tc SPCS3 0.72 0.0123 17 0.209 5 kB 5′
rs7694145:A > Gd SPCS3 0.66 0.0016 0.027 35 kB 3′
rs13144122:A > Ce SPCS3 0.73 0.0128 0.218 40 kB 3′
6p22 SZ rs9396710:T > Cf ATXN1, HS.408455 0.54 0.0065 94 1 8 kB 5′
rs493352:T > Cg ATXN1, HS.408455 0.75 0.0251 1 intron 3
8p21 CL rs1908916:T > Gh FZD3 0.76 0.0071 13 0.092 5 kB 5′
rs1946583:T > Ci FZD3 0.76 0.0040 0.052 1 kB 5′
8p11 BD na GOLGA7 na ns 15 na
13q11 CL na HS.121655 na ns 3 na
13q11 SZ na HS.121655 na ns 3 na
15q13 BD na GOLGA8F na na na na
16p12 BD na CDR2 na ns 3 na
18q21 BD na C18orf12 na na na na

aNC_000003.11:g.124645034 C > T

bNC_000003.11:g.124653868 C > T

cNC_000004.11:g.177235586 C > T

dNC_000004.11:g.177285894 A > G

eNC_000004.11:g.177292032 A > C

fNC_000006.11:g.16772207 T > C

gNC_000006.11:g.16744169 T > C

hNC_000008.10:g.28347283 T > G

iNC_000008.10:g.28350753 T > C

jOdds ratio of the phenotype vs. NARs between the homozygous variant and homozygous reference genotypes

kBonferroni adjusted for the number of non-redundant SNPs tested in the gene