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: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.070 0.857 7 2010 2018
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.060 1.000 6 2013 2018
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2010 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 1.000 3 2010 2018
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.020 1.000 2 2015 2016
dbSNP: rs6971
rs6971
11 0.742 0.200 22 43162920 missense variant A/G snv 0.76 0.75 0.020 1.000 2 2018 2019
dbSNP: rs10044881
rs10044881
1 1.000 0.080 5 148645656 non coding transcript exon variant T/C snv 0.17 0.010 1.000 1 2013 2013
dbSNP: rs10112596
rs10112596
3 0.925 0.120 8 11722293 intron variant A/G snv 0.83 0.010 1.000 1 2018 2018
dbSNP: rs1015443
rs1015443
2 0.925 0.160 12 10908523 missense variant T/A;C snv 4.0E-06; 0.59 0.010 1.000 1 2012 2012
dbSNP: rs10405681
rs10405681
1 1.000 0.080 19 3634021 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs10419980
rs10419980
1 1.000 0.080 19 3685118 intron variant C/T snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs10432303
rs10432303
1 1.000 0.080 19 3656654 intron variant G/A snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs11240
rs11240
2 0.925 0.080 4 55453183 3 prime UTR variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs11250159
rs11250159
1 1.000 0.080 8 11729725 intron variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs11941860
rs11941860
2 1.000 0.080 4 46080161 intron variant C/T snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs141973904
rs141973904
1 1.000 0.080 4 99341085 intron variant C/T snv 1.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs1476592
rs1476592
1 1.000 0.080 19 3679742 intron variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs17153694
rs17153694
4 0.851 0.160 8 11730972 intron variant C/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs17777298
rs17777298
1 1.000 0.080 5 148541962 intron variant T/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs1799913
rs1799913
5 0.851 0.080 11 18025708 splice region variant G/A;T snv 0.39 0.33 0.010 1.000 1 2019 2019
dbSNP: rs2066702
rs2066702
7 0.882 0.080 4 99307860 missense variant G/A snv 1.5E-02 5.9E-02 0.010 1.000 1 2018 2018
dbSNP: rs2074957
rs2074957
1 1.000 0.080 19 3653527 synonymous variant C/A;T snv 8.0E-06; 0.57 0.010 1.000 1 2018 2018
dbSNP: rs2119183
rs2119183
2 1.000 0.080 4 46270789 intron variant G/A snv 7.6E-02 0.010 1.000 1 2019 2019
dbSNP: rs2306073
rs2306073
4 0.882 0.080 12 27402904 intron variant C/T snv 0.37 0.010 1.000 1 2012 2012