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: rs1267306614
rs1267306614
1 1.000 0.080 3 114171850 missense variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1345423
rs1345423
1 1.000 0.080 16 10154207 intron variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2293054
rs2293054
2 0.925 0.080 12 117263909 synonymous variant A/G;T snv 0.69; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs387907128
rs387907128
2 0.925 0.080 16 29813850 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs4704559
rs4704559
4 0.925 0.080 5 79517086 upstream gene variant A/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs4911871
rs4911871
1 1.000 0.080 X 114762580 intron variant A/G snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs1064794533
rs1064794533
4 0.882 0.080 16 56336846 missense variant G/A snv 0.700 0
dbSNP: rs864309483
rs864309483
9 0.851 0.080 3 123352464 missense variant G/A snv 0.700 0
dbSNP: rs165815
rs165815
5 0.882 0.120 22 19971950 missense variant C/T snv 0.75 0.72 0.010 1.000 1 2019 2019
dbSNP: rs28363170
rs28363170
7 0.827 0.120 5 1393745 3 prime UTR variant -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC delins 8.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs34778348
rs34778348
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.010 1.000 1 2013 2013
dbSNP: rs35801418
rs35801418
7 0.827 0.120 12 40321114 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs752513525
rs752513525
3 0.882 0.120 19 19526257 missense variant G/A;T snv 2.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs113994152
rs113994152
11 0.790 0.160 17 75522000 missense variant G/T snv 9.0E-04 9.0E-04 0.010 1.000 1 2014 2014
dbSNP: rs1554389088
rs1554389088
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1799836
rs1799836
7 0.790 0.160 X 43768752 intron variant T/A;C snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs393795
rs393795
4 0.851 0.160 5 1428399 intron variant G/T snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs1563945076
rs1563945076
4 0.925 0.160 9 32974556 frameshift variant A/- del 0.700 0
dbSNP: rs56984562
rs56984562
6 0.827 0.200 1 156137666 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs147484110
rs147484110
11 0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 0.700 0
dbSNP: rs74315442
rs74315442
10 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
dbSNP: rs139455627
rs139455627
14 0.851 0.240 21 44531087 stop gained G/A snv 3.2E-04 2.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872
14 0.851 0.240 21 44509225 frameshift variant GAC/AA delins 0.700 1.000 1 2016 2016
dbSNP: rs146539065
rs146539065
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs776969714
rs776969714
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0