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. 2019 Feb 20;9(3):99. doi: 10.1007/s13205-019-1612-0

Table 3.

Information regarding 53 significant SNPs in the gene-coding region

Chromosome Location GENE Coding region SNP mutation Amino acid P value
2 91,875,907 LOC102181719 exon1 G92 > A S31 > N 1.30E−40
2 130,307,289 ADAMTS1 exon2 T999 > C F333 > F 9.24E−32
3 52,523,643 NRIP1 exon2 C1599 > T T533 > T 9.24E−32
3 80,271,655 CRYBG3 exon4 A6183 > G L2061 > L 9.24E−32
3 101,818,509 LOC102173783 exon1 C32 > A A11 > E 9.24E−32
3 119,201,284 LOC102173783 exon1 G139 > A A47 > T 9.24E−32
4 117,970,006 CCDC54 exon2 G537 > T L179 > L 5.20E−32
4 41,178,772 ABI3BP exon5 G555 > A K185 > K 9.24E−32
4 115,511,202 IMPG2 exon7 C871 > T H291 > Y 9.24E−32
6 47,822,577 LOC102174159 exon3 G398 > A C133 > Y 5.20E−32
6 47,822,774 FBXO40 exon5 C1704 > T G568 > G 5.20E−32
6 47,822,776 CASR exon3 T672 > C I224 > I 9.24E−32
6 99,467,039 LSG1 exon13 G1673 > A R558 > Q 9.24E−32
8 38,320,631 ATP13A4 exon3 G303 > T A101 > A 9.24E−32
10 95,292,937 ECT2 exon22 T2295 > C N765 > N 2.31E−32
10 95,292,988 NCEH1 exon2 C157 > T L53 > L 2.31E−32
10 5,903,771 TMEM207 exon5 A441 > T L147 > L 9.24E−32
10 5,903,918 CLDN16 exon4 C333 > T N111 > N 9.24E−32
10 15,473,437 THPO exon6 A730 > G N244 > D 9.24E−32
10 15,473,583 PSMD2 exon5 A504 > G K168 > K 9.24E−32
10 15,473,584 MCF2L2 exon27 A2966 > G N989 > S 9.24E−32
12 21,625,793 ACTRT3 exon4 G283 > A D95 > N 2.31E−32
12 31,342,839 SI exon7 G823 > A G275 > R 2.31E−32
12 21,625,778 LRRC34 exon1 A247 > G T83 > A 9.24E−32
13 3,430,320 GFM1 exon6 A741 > G A247 > A 5.20E−32
13 46,983,105 SLC33A1 exon1 C564 > T F188 > F 5.20E−32
14 93,960,898 HPS3 exon2 A504 > G E168 > E 2.31E−32
14 59,862,310 HPS3 exon4 C910 > G L304 > V 9.24E−32
15 36,300,093 HPS3 exon2 G393 > A P131 > P 9.24E−32
17 32,851,977 GYG1 exon6 A729 > G P243 > P 2.31E−32
17 36,817,815 GYG1 exon6 A721 > G T241 > A 2.31E−32
18 61,348,015 NME9 exon5 C330 > T R110 > R 5.20E−32
18 32,110,550 U2SURP exon10 A783 > G A261 > A 9.24E−32
20 389,686 PPP2R3A exon2 G533 > A R178 > Q 2.31E−32
20 389,698 UMODL1 exon5 G732 > T S244 > S 2.31E−32
20 62,947,589 TSPEAR exon7 G1056 > A T352 > T 2.31E−32
20 67,736,152 LSS exon5 A543 > T L181 > L 5.20E−32
21 12,384,062 COL6A5 exon5 A1496 > C D499 > A 2.31E−32
21 49,213,040 TBC1D5 exon16 A1065 > C A355 > A 2.31E−32
21 51,940,927 PADI1 exon7 T701 > C L234 > P 2.31E−32
21 51,941,012 UBR4 exon49 T7398 > C A2466 > A 2.31E−32
21 11,432,012 COL6A6 exon36 A5964 > C A1988 > A 9.24E−32
21 17,044,975 CAPN7 exon19 C2103 > T A701 > A 9.24E−32
21 17,045,057 ANKRD28 exon22 G2352 > A T784 > T 9.24E−32
21 51,448,755 PP2D1 exon2 G475 > A E159 > K 9.24E−32
24 17,164,032 ECE1 exon6 C753 > T N251 > N 2.31E−32
24 56,440,261 HSPG2 exon38 C4788 > T A1596 > A 9.24E−32
25 23,393,450 MECR exon6 G859 > C E287 > Q 2.31E−32
26 2,303,781 LOC108633351 exon11 C1355 > G A452 > G 9.24E−32
28 7,085,455 LOC102186814 exon12 A1143 > G T381 > T 2.31E−32
28 5,160,949 LOC102186814 exon12 G1162 > A D388 > N 5.20E−32
29 19,035,254 LOC102186814 exon12 T1122 > C N374 > N 2.31E−32
29 21,205,216 LOC102186814 exon12 C1095 > T S365 > S 2.31E−32