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: rs1040411
rs1040411
3 1.000 0.120 6 106150148 intron variant G/A snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs10420252
rs10420252
2 1.000 0.080 19 35648270 upstream gene variant G/A snv 9.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2010 2014
dbSNP: rs1047781
rs1047781
11 0.790 0.200 19 48703374 missense variant A/T snv 3.6E-02 1.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs104894228
rs104894228
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1049074086
rs1049074086
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs10491121
rs10491121
5 0.882 0.120 17 36102943 upstream gene variant G/A snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs1051660
rs1051660
3 1.000 0.080 8 53251002 synonymous variant C/A;T snv 0.11 0.010 < 0.001 1 2017 2017
dbSNP: rs1052667
rs1052667
6 0.882 0.040 19 47004177 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1053129
rs1053129
1 5 80626901 3 prime UTR variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1056123575
rs1056123575
4 0.925 0.080 21 26844557 missense variant G/A snv 4.2E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1056629
rs1056629
6 0.827 0.120 16 82148499 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2017 2017
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1057519783
rs1057519783
ALK
10 0.851 0.080 2 29220747 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519816
rs1057519816
14 0.763 0.200 17 39711955 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519824
rs1057519824
MET
10 0.807 0.120 7 116783374 missense variant T/G snv 0.020 1.000 2 2005 2009
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2017 2017
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.040 1.000 4 2012 2018
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.040 1.000 4 2012 2018
dbSNP: rs1057519864
rs1057519864
AR
8 0.851 0.080 X 67723707 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519874
rs1057519874
9 0.807 0.120 7 6387261 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519902
rs1057519902
16 0.742 0.160 1 226064451 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519903
rs1057519903
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519904
rs1057519904
17 0.742 0.080 6 27872233 missense variant T/A snv 0.010 1.000 1 2016 2016