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: 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: 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: rs200748388
rs200748388
1 7 87601021 5 prime UTR variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs745614189
rs745614189
1 7 87549387 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: rs2231142
rs2231142
56 0.583 0.680 4 88131171 missense variant G/C;T snv 4.0E-06; 0.12 0.030 1.000 3 2006 2019
dbSNP: rs2231137
rs2231137
13 0.752 0.400 4 88139962 missense variant C/T snv 0.11 7.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs2244613
rs2244613
4 0.882 0.120 16 55810697 intron variant G/A;T snv 8.0E-06; 0.73 0.010 1.000 1 2015 2015
dbSNP: rs10474485
rs10474485
2 1.000 0.040 5 76975028 intron variant C/A snv 0.26 0.010 1.000 1 2016 2016
dbSNP: rs3758581
rs3758581
3 0.925 0.040 10 94842866 missense variant A/G snv 0.95 0.010 1.000 1 2017 2017
dbSNP: rs1057910
rs1057910
12 0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs142110773
rs142110773
13 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs2032592
rs2032592
5 0.851 0.160 Y 12919473 3 prime UTR variant A/G snv 1.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs67376798
rs67376798
9 0.851 0.120 1 97082391 missense variant T/A snv 2.8E-03 3.3E-03 0.020 1.000 2 2014 2015
dbSNP: rs17376848
rs17376848
3 0.925 0.040 1 97450068 synonymous variant A/G snv 5.1E-02 4.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs1801265
rs1801265
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 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: rs7548189
rs7548189
4 0.882 0.160 1 97402157 intron variant C/A snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs2227983
rs2227983
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.020 0.500 2 2010 2010
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
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs35106244
rs35106244
2 19 48700572 intron variant C/T snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs601338
rs601338
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2019 2019
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