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: rs17594362
rs17594362
1 1.000 0.080 13 41565109 downstream gene variant C/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs17849781
rs17849781
22 0.701 0.480 17 7673788 missense variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2019 2019
dbSNP: rs1979277
rs1979277
45 0.620 0.560 17 18328782 missense variant G/A snv 0.27 0.31 0.010 < 0.001 1 2019 2019
dbSNP: rs2070874
rs2070874
IL4
27 0.672 0.560 5 132674018 5 prime UTR variant C/T snv 0.28 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2230199
rs2230199
C3
10 0.763 0.240 19 6718376 missense variant G/C;T snv 0.15 0.010 1.000 1 2019 2019
dbSNP: rs2232365
rs2232365
16 0.716 0.480 X 49259429 intron variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs2243248
rs2243248
IL4
9 0.763 0.240 5 132672952 upstream gene variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2454138
rs2454138
3 0.925 0.120 6 32602624 intergenic variant G/A snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs2777899
rs2777899
4 0.851 0.160 17 59755030 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs3027898
rs3027898
11 0.752 0.360 X 154010439 downstream gene variant C/A snv 0.010 1.000 1 2019 2019
dbSNP: rs3200401
rs3200401
11 0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17 0.010 1.000 1 2019 2019
dbSNP: rs35829419
rs35829419
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs368311455
rs368311455
4 0.882 0.200 1 53211185 missense variant C/T snv 3.2E-05 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs3746544
rs3746544
10 0.790 0.120 20 10306436 3 prime UTR variant G/T snv 0.68 0.010 1.000 1 2019 2019
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2019 2019
dbSNP: rs3809263
rs3809263
2 1.000 0.080 12 664290 upstream gene variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs3918242
rs3918242
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs4364506
rs4364506
1 1.000 0.080 6 130068795 intron variant G/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs479333
rs479333
2 1.000 0.080 2 32264089 intron variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs522308
rs522308
3 0.925 0.120 6 32614145 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs61745847
rs61745847
1 1.000 0.080 17 76077013 missense variant G/T snv 6.2E-03 6.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs619586
rs619586
15 0.724 0.360 11 65498698 non coding transcript exon variant A/G snv 5.9E-02 3.3E-02 0.010 1.000 1 2019 2019
dbSNP: rs662139
rs662139
1 1.000 0.080 5 41474473 intron variant T/C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs6782011
rs6782011
7 0.807 0.120 3 7457960 intron variant C/T snv 0.52 0.010 1.000 1 2019 2019