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. 2020 Jun 24;2(3):100032. doi: 10.1016/j.cytox.2020.100032

Table 2.

Characterization of all polymorphisms in NLRP3 and CASP1, included in analysis of study.

Gene CHR SNP A1 A2 MAF FUNCTION RegulomeDB
NLRP3 1 rs56383829 T C 0.49 intron variant 5
NLRP3 1 rs3806265 C T 0.47 intron variant 5
NLRP3 1 rs10159239 G A 0.39 intron variant 5
NLRP3 1 rs12137901 C T 0.30 intron variant, upstream variant 2 KB 4
NLRP3 1 rs12130711 T C 0.28 intron variant 1f
NLRP3 1 rs4925659 A G 0.28 intron variant 4
NLRP3 1 rs10925023 T G 0.28 intron variant 7
NLRP3 1 rs200927356 G A 0.27 intron variant 5
NLRP3 1 rs72553860 G A 0.26 intron variant, upstream variant 2 KB 4
NLRP3 1 rs4925650 A G 0.26 intron variant 7
NLRP3 1 rs4378247 C T 0.24 intron variant 3a
NLRP3 1 rs12565738 T C 0.24 intron variant 5
NLRP3 1 rs4925654 A G 0.21 intron variant 6
NLRP3 1 rs12728998 T C 0.18 intron variant 7
NLRP3 1 rs7525979 T C 0.15 synonymous codon 5
NLRP3 1 rs79796552 G A 0.14 intron variant 6
NLRP3 1 rs4925648 T C 0.13 intron variant, upstream variant 2 KB 7
NLRP3 1 rs10925022 G A 0.12 intron variant 5
NLRP3 1 rs36021952 A G 0.11 intron variant 3a
NLRP3 1 rs72771992 G T 0.11 utr variant 5 prime 7
NLRP3 1 rs74154644 T C 0.11 intron variant 5
NLRP3 1 rs45624634 A C 0.11 intron variant 4
NLRP3 1 rs4925651 T G 0.10 intron variant 5
NLRP3 1 rs4925543 A G 0.10 synonymous codon 5
NLRP3 1 rs7524914 C T 0.09 intron variant 6
NLRP3 1 rs73136263 T G 0.03 utr variant 5 prime 7
NLRP3 1 rs55914518 A G 0.02 intron variant 6
NLRP3 1 rs35433972 T C 0.02 intron variant 5
NLRP3 1 rs116096527 A G 0.01 intron variant 5
CASP1 11 rs79180143 A C 0.28 intron variant, utr variant 3 prime 7
CASP1 11 rs531542 A G 0.14 intron variant 3a
CASP1 11 rs580253 A G 0.14 intron variant, synonymous codon 7
CASP1 11 rs7925706 T C 0.13 intron variant, utr variant 5 prime 4
CASP1 11 rs556205 G T 0.08 intron variant 6
CASP1 11 rs75775137 G A 0.06 intron variant 5

CHR, chromosome; SNP, single nucleotide polymorphism; A1, minor allele; A2, ancestral allele; MAF, minor allele frequency; utr, untranslated region.