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: rs5743611
rs5743611
7 0.807 0.160 4 38798593 missense variant C/G snv 6.9E-02 7.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2016 2016
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.060 0.667 6 2004 2019
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.778 9 2004 2019
dbSNP: rs4284742
rs4284742
2 0.925 0.040 19 51628480 intron variant A/G snv 0.78 0.010 1.000 1 2017 2017
dbSNP: rs419598
rs419598
13 0.742 0.280 2 113129630 synonymous variant T/C snv 0.26 0.21 0.010 1.000 1 2017 2017
dbSNP: rs4073
rs4073
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.020 0.500 2 2015 2017
dbSNP: rs396991
rs396991
14 0.742 0.480 1 161544752 missense variant A/C;G;T snv 0.33; 4.1E-06 0.010 1.000 1 2013 2013
dbSNP: rs3853839
rs3853839
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3826782
rs3826782
3 0.882 0.040 19 6887725 intron variant G/A snv 8.6E-02 0.800 1.000 1 2013 2013
dbSNP: rs3764879
rs3764879
6 0.807 0.320 X 12906578 intron variant C/G snv 0.30 0.010 1.000 1 2019 2019
dbSNP: rs35068180
rs35068180
5 0.851 0.040 11 102845217 upstream gene variant A/-;AA delins 0.010 1.000 1 2015 2015
dbSNP: rs333
rs333
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs3217992
rs3217992
22 0.683 0.480 9 22003224 3 prime UTR variant C/T snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs3102735
rs3102735
12 0.752 0.400 8 118952831 upstream gene variant T/C snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs30461
rs30461
5 0.827 0.120 19 39298475 missense variant A/G snv 0.13 0.25 0.020 < 0.001 2 2015 2019
dbSNP: rs2738058
rs2738058
2 0.925 0.160 8 6964095 upstream gene variant T/C snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs2737190
rs2737190
6 0.827 0.120 9 117701903 upstream gene variant G/A snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs2723183
rs2723183
2 1.000 0.040 2 112917144 missense variant A/G snv 6.8E-02 1.0E-01 0.010 1.000 1 2020 2020
dbSNP: rs2569991
rs2569991
2 0.925 0.040 3 12881698 intron variant C/A snv 0.72 0.700 1.000 1 2013 2013
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.030 0.667 3 2016 2019
dbSNP: rs25681
rs25681
C5
3 0.882 0.120 9 121017727 synonymous variant G/A snv 0.47 0.35 0.010 1.000 1 2010 2010
dbSNP: rs2521634
rs2521634
3 0.882 0.040 7 24338421 intron variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs242016
rs242016
3 0.882 0.040 12 3679094 synonymous variant G/A snv 0.13 0.13 0.700 1.000 1 2018 2018