Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs6505162
rs6505162
17 0.734 0.214 17 30117165 5 prime UTR variant A/C,T snp 0.50; 3.1E-05 0.42; 6.4E-05 0.030 1.000 3 2018 2018
dbSNP: rs4919510
rs4919510
19 0.685 0.464 10 100975021 mature miRNA variant C/G snp 0.27 0.27 0.020 1.000 2 2017 2018
dbSNP: rs1044250
rs1044250
7 0.878 0.143 19 8371280 missense variant C/T snp 0.30 0.29 0.010 1.000 1 2017 2017
dbSNP: rs1047344644
rs1047344644
2 7 143268092 missense variant C/A,T snp 8.0E-06; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1048943
rs1048943
53 0.572 0.571 15 74720644 missense variant T/C snp 0.11 5.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs1052133
rs1052133
77 0.533 0.643 3 9757089 missense variant C/G snp 0.27 0.22 0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs11614913
rs11614913
49 0.585 0.607 12 53991815 mature miRNA variant C/T snp 0.39 0.35 0.010 1.000 1 2018 2018
dbSNP: rs121912664
rs121912664
31 0.667 0.357 17 7670699 missense variant C/A,G,T snp 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs121913377
rs121913377
32 0.638 0.393 7 140753335 missense variant CA/AT,TT multinucleotide-polymorphism 0.010 1.000 1 2018 2018
dbSNP: rs1258159645
rs1258159645
2 16 69711128 missense variant G/A snp 3.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs1447295
rs1447295
9 0.801 0.107 8 127472793 intron variant A/C,T snp 0.82; 3.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs144848
rs144848
14 0.724 0.250 13 32332592 missense variant A/C snp 0.28 0.22 0.010 1.000 1 2018 2018
dbSNP: rs1464681682
rs1464681682
2 21 6486334 T/C,G snp 0.010 1.000 1 2017 2017
dbSNP: rs1695
rs1695
100 0.510 0.679 11 67585218 missense variant A/G snp 0.34 0.35 0.010 1.000 1 2018 2018
dbSNP: rs1799793
rs1799793
51 0.585 0.500 19 45364001 missense variant C/A,T snp 7.1E-06; 0.29 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1800566
rs1800566
41 0.605 0.571 16 69711242 missense variant G/A snp 0.25 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1805087
rs1805087
MTR
75 0.538 0.679 1 236885200 missense variant A/G snp 0.20 0.21 0.010 1.000 1 2018 2018
dbSNP: rs2070600
rs2070600
44 0.602 0.643 6 32183666 missense variant C/T snp 5.3E-02 4.4E-02 0.010 1.000 1 2018 2018
dbSNP: rs2228611
rs2228611
5 0.878 0.071 19 10156401 synonymous variant T/A,C snp 0.52 3.2E-05; 0.51 0.010 1.000 1 2018 2018
dbSNP: rs2228612
rs2228612
8 0.821 0.107 19 10162696 missense variant T/A,C,G snp 0.14 0.11 0.010 1.000 1 2018 2018
dbSNP: rs2279744
rs2279744
30 0.647 0.393 12 68808800 intron variant T/G snp 0.31 0.010 1.000 1 2017 2017
dbSNP: rs2736100
rs2736100
52 0.596 0.571 5 1286401 intron variant C/A snp 0.53 0.010 1.000 1 2018 2018
dbSNP: rs2853669
rs2853669
16 0.724 0.179 5 1295234 TF binding site variant A/G snp 0.24 0.010 1.000 1 2018 2018
dbSNP: rs351855
rs351855
35 0.642 0.357 5 177093242 missense variant G/A snp 0.33 0.27 0.010 1.000 1 2018 2018