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. 2020 Apr 9;20:299. doi: 10.1186/s12885-020-06779-4

Table 3.

Detail information of the RIPK1 gene polymorphisms

SNP Chromosome BP Alleles Group Genotype Allele MAF HWE p HaploReg
rs6907943 6 3,078,032 A/C CC CA AA C A Enhancer histone marks, Motifs changed, Selected eQTL hits
Control 13 (2.62%) 129 (25.96%) 355 (71.42%) 155 (15.59%) 839 (84.41%) 0.156 0.734
Case 15 (4.40%) 77 (22.58%) 249 (73.02%) 107 (15.69%) 575 (84.31%) 0.157
rs2077681 6 3,085,866 A/G CC CT TT C T Motifs changed, Selected eQTL hits
Control 9 (1.82%) 140 (28.28%) 346 (69.90%) 158 (15.96%) 832 (84.04%) 0.160 0.313
Case 19 (5.57%) 89 (26.10%) 233 (68.33%) 127 (18.62%) 555 (81.38%) 0.186
rs9503400 6 3,108,673 A/G AA AG GG A G Enhancer histone marks, Motifs changed
Control 1 (0.20%) 47 (9.44%) 450 (90.36%) 49 (4.92%) 947 (95.08%) 0.051 1.000
Case 3 (0.88%) 39 (11.40%) 300 (87.72%) 45 (6.58%) 639 (93.42%) 0.066
rs17548629 6 3,114,223 C/T TT TC CC T C Motifs changed
Control 9 (1.81%) 122 (24.50%) 367 (73.69%) 140 (14.06%) 856 (85.94%) 0.141 0.855
Case 10 (2.92%) 72 (21.05%) 260 (76.03%) 92 (13.45%) 592 (86.55%) 0.134

SNP Sing nucleotide polymorphism, MAF Minor allele frequency, HWE Hardy weinberg equilibrium