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: rs3018362
rs3018362
4 0.882 0.120 18 62414860 upstream gene variant A/G snv 0.67 0.020 0.500 2 2018 2019
dbSNP: rs6426749
rs6426749
3 1.000 0.080 1 22384980 intergenic variant G/C snv 0.19 0.020 1.000 2 2018 2019
dbSNP: rs12151790
rs12151790
1 1.000 0.080 2 234302083 regulatory region variant G/A snv 0.13 0.800 1.000 1 2010 2010
dbSNP: rs12742784
rs12742784
2 1.000 0.080 1 22355873 intergenic variant C/A;T snv 0.010 1.000 1 2020 2020
dbSNP: rs12808199
rs12808199
1 1.000 0.080 11 39306409 intergenic variant G/A snv 0.47 0.800 1.000 1 2010 2010
dbSNP: rs1471400
rs1471400
1 1.000 0.080 4 87853095 regulatory region variant G/A snv 0.38 0.010 1.000 1 2013 2013
dbSNP: rs1471403
rs1471403
2 1.000 0.080 4 87854091 intergenic variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs34920465
rs34920465
9 0.807 0.160 1 22373858 intergenic variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs4355801
rs4355801
5 0.882 0.120 8 118911634 regulatory region variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs6532023
rs6532023
3 1.000 0.080 4 87852697 regulatory region variant T/G snv 0.66 0.010 1.000 1 2013 2013
dbSNP: rs7683315
rs7683315
2 1.000 0.080 4 87851943 intergenic variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs1800544
rs1800544
12 0.790 0.160 10 111076745 upstream gene variant G/C snv 0.59 0.020 1.000 2 2015 2018
dbSNP: rs1440203097
rs1440203097
1 1.000 0.080 2 96116013 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs671
rs671
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.020 1.000 2 2012 2017
dbSNP: rs13182402
rs13182402
4 0.925 0.160 5 126582456 intron variant A/G snv 0.15 0.800 1.000 1 2010 2010
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.010 1.000 1 2010 2010
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs1800247
rs1800247
4 0.882 0.200 1 156242034 intron variant T/C snv 0.20 0.010 1.000 1 2016 2016
dbSNP: rs2273073
rs2273073
3 0.882 0.120 20 6770235 missense variant T/C;G snv 2.4E-02 0.020 0.500 2 2006 2008
dbSNP: rs235768
rs235768
8 0.807 0.160 20 6778468 missense variant A/G;T snv 0.67 0.010 < 0.001 1 2006 2006
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2016 2016
dbSNP: rs1801197
rs1801197
5 0.851 0.240 7 93426441 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2013 2018
dbSNP: rs1801725
rs1801725
39 0.633 0.600 3 122284910 missense variant G/T snv 0.13 0.11 0.020 < 0.001 2 2003 2007
dbSNP: rs4869739
rs4869739
2 1.000 0.080 6 151580667 intron variant A/T snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs4870044
rs4870044
3 1.000 0.080 6 151580274 intron variant C/T snv 0.44 0.010 1.000 1 2011 2011