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: rs7055196
rs7055196
1 1.000 0.200 X 44245292 intron variant A/G snv 0.23 0.020 1.000 2 2008 2015
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2019 2019
dbSNP: rs2305767
rs2305767
4 0.882 0.280 19 17183487 intron variant C/T snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs2854744
rs2854744
20 0.695 0.520 7 45921476 intron variant G/T snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.500 4 2008 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 0.667 3 2008 2015
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 0.667 3 2010 2020
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 < 0.001 1 2015 2015
dbSNP: rs104894966
rs104894966
SRY
3 0.882 0.200 Y 2787267 missense variant C/T snv 0.010 1.000 1 1993 1993
dbSNP: rs104894971
rs104894971
SRY
3 0.882 0.200 Y 2787551 missense variant C/T snv 4.4E-05 0.010 1.000 1 1998 1998
dbSNP: rs104894972
rs104894972
SRY
6 0.807 0.240 Y 2787320 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs1217301314
rs1217301314
5 0.827 0.240 11 57333494 missense variant T/C snv 1.2E-05 2.1E-05 0.010 1.000 1 2000 2000
dbSNP: rs121918655
rs121918655
5 0.851 0.200 9 124493143 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1389990700
rs1389990700
1 1.000 0.200 22 50627389 missense variant C/G snv 7.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs1448674651
rs1448674651
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 < 0.001 1 2015 2015
dbSNP: rs201340156
rs201340156
3 0.882 0.200 9 124500571 missense variant G/A;C snv 6.7E-05 0.010 1.000 1 2016 2016
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs3782415
rs3782415
3 0.925 0.280 12 93573979 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs11003125
rs11003125
7 0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31 0.010 1.000 1 2020 2020
dbSNP: rs7096206
rs7096206
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.010 1.000 1 2020 2020