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: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2020 2020
dbSNP: rs3730358
rs3730358
14 0.724 0.360 14 104780070 intron variant G/A;C snv 0.16; 4.0E-03 0.010 1.000 1 2020 2020
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2019 2019
dbSNP: rs12836771
rs12836771
4 0.882 0.080 X 114650913 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs165940
rs165940
4 0.925 0.040 5 59383658 intron variant A/T snv 0.38 0.010 1.000 1 2019 2019
dbSNP: rs4436578
rs4436578
4 0.925 0.080 11 113436043 intron variant C/T snv 0.73 0.010 1.000 1 2019 2019
dbSNP: rs518147
rs518147
7 0.807 0.200 X 114584109 5 prime UTR variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs61749465
rs61749465
5 0.851 0.120 8 6414832 missense variant A/G snv 2.1E-03 1.9E-03 0.010 1.000 1 2019 2019
dbSNP: rs7799039
rs7799039
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs3761554
rs3761554
2 1.000 0.040 X 123183391 upstream gene variant T/C snv 0.21 0.010 < 0.001 1 2018 2018
dbSNP: rs502434
rs502434
2 1.000 0.040 X 123403426 synonymous variant T/C snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs989638
rs989638
3 0.925 0.040 X 123239256 intron variant C/G;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs10494561
rs10494561
3 1.000 0.040 1 183277955 intron variant C/T snv 9.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs10503929
rs10503929
3 0.925 0.040 8 32756465 missense variant T/C snv 0.13 0.13 0.010 1.000 1 2017 2017
dbSNP: rs12807809
rs12807809
4 0.882 0.160 11 124736389 upstream gene variant T/C snv 0.20 0.010 1.000 1 2017 2017
dbSNP: rs1800955
rs1800955
8 0.827 0.160 11 636784 upstream gene variant T/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs2007044
rs2007044
6 0.882 0.040 12 2235794 intron variant A/G snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs2236418
rs2236418
6 0.882 0.120 10 26216567 upstream gene variant A/G snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs2424913
rs2424913
18 0.708 0.440 20 32786453 intron variant C/T snv 0.56 0.53 0.010 1.000 1 2017 2017
dbSNP: rs6465084
rs6465084
5 0.851 0.040 7 86774159 intron variant A/G snv 0.26 0.010 1.000 1 2017 2017
dbSNP: rs701428
rs701428
4 1.000 0.040 22 20241019 downstream gene variant A/G snv 0.56 0.010 1.000 1 2017 2017
dbSNP: rs701492
rs701492
2 1.000 0.040 2 170845970 intron variant C/T snv 0.30 0.28 0.010 1.000 1 2017 2017
dbSNP: rs769404
rs769404
2 1.000 0.040 2 170822115 synonymous variant T/C snv 0.39 0.35 0.010 1.000 1 2017 2017