Source: ALL
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: rs1042597
rs1042597
3 2 233618225 missense variant C/G;T snv 0.27; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs12462111
rs12462111
2 19 48668049 intron variant C/T snv 0.33 0.700 1.000 1 2016 2016
dbSNP: rs12513549
rs12513549
1 5 80781309 intron variant G/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs1360182594
rs1360182594
1 1 11790755 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1458320839
rs1458320839
1 2 219218640 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs17868320
rs17868320
1 2 233669782 intron variant C/T snv 4.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs200748388
rs200748388
1 7 87601021 5 prime UTR variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2151222
rs2151222
1 1 206480926 intron variant A/G snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs33013
rs33013
1 5 80764197 intron variant G/A snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs35106244
rs35106244
2 19 48700572 intron variant C/T snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs546983534
rs546983534
1 14 103708630 missense variant G/A snv 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs56038477
rs56038477
1 1 97573863 synonymous variant C/T snv 1.4E-02 1.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs6151627
rs6151627
1 5 80669717 intron variant A/G snv 0.23 0.010 1.000 1 2019 2019
dbSNP: rs745614189
rs745614189
1 7 87549387 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs769107320
rs769107320
1 4 69108277 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs8111874
rs8111874
1 19 48665685 intron variant G/A snv 0.32 0.710 1.000 1 2016 2016
dbSNP: rs9351963
rs9351963
1 6 73040138 intron variant A/C snv 0.19 0.010 1.000 1 2014 2014
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2015 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.050 1.000 5 2009 2017
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.010 < 0.001 1 2014 2014
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 1.000 2 2010 2017
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2018 2018
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2018 2018