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: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.900 0.953 149 2009 2020
dbSNP: rs2645424
rs2645424
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.820 1.000 2 2010 2014
dbSNP: rs2896019
rs2896019
10 0.790 0.160 22 43937814 intron variant T/G snv 0.20 0.810 1.000 3 2013 2018
dbSNP: rs2073080
rs2073080
2 0.925 0.040 22 43998522 intron variant C/T snv 0.20 0.810 1.000 2 2012 2018
dbSNP: rs343064
rs343064
2 0.925 0.080 7 35515178 upstream gene variant C/G;T snv 0.810 1.000 2 2010 2015
dbSNP: rs2143571
rs2143571
5 0.827 0.080 22 43995806 intron variant G/A snv 0.25 0.800 1.000 3 2012 2018
dbSNP: rs738491
rs738491
3 0.882 0.040 22 43958231 intron variant C/T snv 0.34 0.800 1.000 2 2013 2018
dbSNP: rs222054
rs222054
1 1.000 0.040 4 71738582 downstream gene variant C/G snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs643608
rs643608
2 0.925 0.080 21 43348682 intergenic variant C/T snv 0.69 0.800 1.000 1 2010 2010
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.790 1.000 10 2011 2019
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.760 1.000 7 2014 2019
dbSNP: rs2228603
rs2228603
12 0.790 0.360 19 19219115 missense variant C/A;T snv 2.8E-05; 5.9E-02 0.720 0.667 3 2011 2016
dbSNP: rs3761472
rs3761472
2 0.925 0.040 22 43972242 missense variant A/G snv 0.21 0.18 0.710 1.000 2 2013 2018
dbSNP: rs3810622
rs3810622
1 1.000 0.040 22 43942254 intron variant T/C;G snv 0.40 0.710 1.000 2 2013 2016
dbSNP: rs4240624
rs4240624
5 0.882 0.040 8 9326721 intron variant G/A snv 0.87 0.710 1.000 2 2011 2014
dbSNP: rs5764455
rs5764455
1 1.000 0.040 22 44002644 intron variant A/C;G snv 0.710 1.000 2 2013 2016
dbSNP: rs6006473
rs6006473
2 0.925 0.040 22 43997195 intron variant C/T snv 0.47 0.710 1.000 2 2013 2016
dbSNP: rs698718
rs698718
1 1.000 0.040 16 68526282 upstream gene variant A/C;G;T snv 0.710 1.000 1 2019 2019
dbSNP: rs2073082
rs2073082
1 1.000 0.040 22 43964127 intron variant G/A snv 0.18 0.700 1.000 2 2012 2013
dbSNP: rs10272006
rs10272006
SP4
3 0.925 0.080 7 21480514 intron variant G/A snv 0.75 0.700 1.000 1 2019 2019
dbSNP: rs117542855
rs117542855
1 1.000 0.040 11 1635713 regulatory region variant C/G;T snv 3.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs11794552
rs11794552
1 1.000 0.040 9 131344938 intron variant C/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs11820744
rs11820744
2 1.000 0.040 11 3147308 intron variant C/T snv 0.23 0.700 1.000 1 2019 2019
dbSNP: rs11976006
rs11976006
3 1.000 0.040 7 28691895 intron variant G/A snv 6.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs1227756
rs1227756
2 0.925 0.080 10 69828748 intron variant G/A;C snv 0.700 1.000 1 2010 2010