Source: ALL
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: rs1057519864
rs1057519864
AR
8 0.851 0.080 X 67723707 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1317052311
rs1317052311
VEGFD ; PIR-FIGF
1 X 15358134 missense variant C/A snv 5.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs1340026226
rs1340026226
AR
3 1.000 0.080 X 67711662 missense variant G/A snv 9.5E-06 0.010 1.000 1 2009 2009
dbSNP: rs137852578
rs137852578
AR
10 0.827 0.080 X 67723710 missense variant A/G snv 0.010 1.000 1 2002 2002
dbSNP: rs753066745
rs753066745
SH3BGRL
2 X 81277164 missense variant C/T snv 1.7E-05 9.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs864622007
rs864622007
AR
5 0.882 0.200 X 67711621 missense variant T/A snv 0.010 1.000 1 2002 2002
dbSNP: rs976306779
rs976306779
AR
8 0.851 0.080 X 67545492 missense variant C/A;T snv 6.6E-06 0.010 1.000 1 2008 2008
dbSNP: rs17879961
rs17879961
CHEK2
53 0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 0.020 0.500 2 2016 2019
dbSNP: rs1235679626
rs1235679626
MORC2
3 0.925 0.080 22 30940834 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs1056123575
rs1056123575
ADAMTS1
4 0.925 0.080 21 26844557 missense variant G/A snv 4.2E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2835931
rs2835931
KCNJ6
4 1.000 0.120 21 37749345 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs477145
rs477145
TIAM1
4 1.000 0.120 21 31390097 intron variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs767649
rs767649
MIR155HG ; MIR155
18 0.695 0.480 21 25572410 intron variant T/A snv 7.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs772893086
rs772893086
ADARB1
4 0.925 0.080 21 45176099 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2005 2010
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.020 1.000 2 2005 2007
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.020 1.000 2 2005 2007
dbSNP: rs1219211410
rs1219211410
CDC25B
3 0.925 0.080 20 3800494 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs2064863
rs2064863
AURKA
4 0.925 0.120 20 56387716 intron variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs3918242
rs3918242
MMP9
54 0.602 0.680 20 46007337 upstream gene variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs4647958
rs4647958
SNAI1
5 0.851 0.080 20 49984094 missense variant T/C snv 0.18 0.29 0.010 1.000 1 2014 2014
dbSNP: rs6024836
rs6024836
AURKA ; FAM210B
7 0.851 0.160 20 56369012 downstream gene variant G/A snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.020 1.000 2 2015 2018
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.020 1.000 2 2015 2019