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. Author manuscript; available in PMC: 2020 Sep 18.
Published in final edited form as: J BioX Res. 2019 Mar;2(1):16–24. doi: 10.1097/jbr.0000000000000026

Table 2.

Top 10 GWAS Loci associated with α-SMA expression and total collagen content.

SNP Gene Locus Position A1 A2 MAF Beta SE P
α-SMA expression
rs8015303 BAZ1A 14q13.2 34316223 G A 0.06967 −0.7229 0.1313 3.70e-7
rs1012580 NOL10 2p25.1 10725199 A G 0.2869 −0.4247 0.07935 6.96e-7
rs12722561 IL2RA 10p15.1 6109899 A G 0.1557 −0.5144 0.09968 1.54e-6
rs12479413 AK311291 2q14.3 129343258 G A 0.05328 −0.9579 0.1869 1.78e-6
rs1274351 BC037970 10q23.31 92237989 A G 0.123 −0.5068 0.09921 1.90e-6
rs1274323 HTR7 10q23.31 92264462 G A 0.127 −0.5038 0.09925 2.17e-6
rs724999 ST6GALNAC3 1p31.1 76961614 A G 0.07438 −0.8518 0.1741 4.58e-6
rs12207 TUBB3 16q24.3 88529861 A G 0.05785 −0.9667 0.2023 7.23e-6
rs1345546 NUAK1 12q23.3 104826063 A G 0.09426 −0.6404 0.1381 1.23e-5
rs10281171 AOAH 7p14.2 36773906 G A 0.3852 −0.3295 0.07149 1.37e-5
Total collagen content
rs6908031 FAM46A 6q14.1 81900082 G A 0.2992 −0.2554 0.04814 8.46e-7
rs2108935 LDB2 4p15.32 16453008 G A 0.2541 −0.2545 0.05043 2.44e-6
rs7089692 ZWINT 10q21.1 58603555 G A 0.2459 −0.2431 0.0493 3.89e-6
rs3950119 BCAR3 1p22.1 93821825 G A 0.2336 0.2674 0.05438 4.10e-6
rs9512950 TPTE2 13q12.11 18870233 C A 0.2992 −0.2572 0.05406 7.74e-6
rs181662 EMX2 10q26.11 119372445 G A 0.3279 0.2253 0.04743 7.97e-6
rs13092046 CNTN3 3p12.3 74617642 A G 0.4262 0.2266 0.04828 9.97e-6
rs2237172 ATXN1 6p22.3 16709566 G A 0.3512 −0.2444 0.05214 1.03e-5
rs6894788 EFNA5 5q21.3 106875173 G A 0.2645 0.2476 0.05317 1.16e-5
rs9368758 COL11A2 6p21.32 33245999 A G 0.06557 −0.4443 0.09714 1.58e-5

The single nucleotide polymorphism is mapped to its nearest gene; A1 is the minor allele, and A2 is the major allele; All positions refer to hg18. α-SMA=alpha-smooth muscle actin, MAF=minor allele frequencies, SE=standard error.