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: 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: rs4149056
rs4149056
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.030 1.000 3 2016 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: rs1801019
rs1801019
4 0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 0.020 1.000 2 2006 2011
dbSNP: rs211105
rs211105
4 1.000 11 18033757 intron variant T/G snv 0.19 0.020 1.000 2 2015 2018
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: 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: rs1042597
rs1042597
3 2 233618225 missense variant C/G;T snv 0.27; 4.0E-06 0.010 1.000 1 2010 2010
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: rs1050274678
rs1050274678
3 0.925 0.040 21 45530803 missense variant C/T snv 1.1E-05 7.0E-06 0.010 1.000 1 2016 2016
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: 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: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs121918081
rs121918081
TTR
3 0.925 0.200 18 31595124 missense variant A/G snv 0.010 1.000 1 2016 2016
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: rs1448674651
rs1448674651
23 0.667 0.560 18 671384 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1458320839
rs1458320839
1 2 219218640 missense variant C/A;T snv 0.010 1.000 1 2016 2016
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: rs17868320
rs17868320
1 2 233669782 intron variant C/T snv 4.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs1801265
rs1801265
13 0.763 0.280 1 97883329 missense variant A/G snv 0.28 0.010 1.000 1 2015 2015