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: rs76545266
rs76545266
2 0.925 0.040 8 34224003 upstream gene variant T/C snv 2.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs797267
rs797267
2 0.925 0.040 12 89373460 intron variant A/G snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs8039398
rs8039398
2 0.925 0.040 15 47438673 intron variant T/C snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs9773390
rs9773390
1 1.000 8 80653457 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs9919557
rs9919557
1 1.000 11 113006686 intron variant T/C snv 0.44 0.700 1.000 1 2018 2018
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.100 0.917 12 2010 2018
dbSNP: rs2494732
rs2494732
11 0.763 0.240 14 104772855 intron variant T/C snv 0.50 0.47 0.040 0.750 4 2011 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2011 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2011 2017
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2018 2018
dbSNP: rs1076560
rs1076560
11 0.776 0.120 11 113412966 intron variant C/A snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2019 2019
dbSNP: rs2020936
rs2020936
10 0.776 0.160 17 30223796 intron variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs2023239
rs2023239
20 0.724 0.160 6 88150763 intron variant T/C snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs2295633
rs2295633
7 0.827 0.120 1 46408711 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs806374
rs806374
2 0.925 0.080 6 88147601 intron variant T/C snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2017 2017