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: rs1799889
rs1799889
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs137853078
rs137853078
3 0.925 0.120 19 1220396 missense variant G/A snv 0.700 0
dbSNP: rs730881976
rs730881976
4 0.882 0.240 19 1220702 stop gained C/A;G snv 0.700 0
dbSNP: rs6534637
rs6534637
1 1.000 0.120 4 127728735 upstream gene variant A/C snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs121913482
rs121913482
45 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
dbSNP: rs121913483
rs121913483
31 0.649 0.560 4 1801841 missense variant C/A;G;T snv 4.2E-06; 1.3E-05 0.700 0
dbSNP: rs4647924
rs4647924
49 0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs28931614
rs28931614
21 0.672 0.520 4 1804392 missense variant G/A;C snv 0.700 0
dbSNP: rs28933068
rs28933068
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 0
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.700 0
dbSNP: rs3770112
rs3770112
1 1.000 0.120 2 181512814 intron variant G/A snv 0.23 0.700 1.000 1 2009 2009
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2016 2016
dbSNP: rs6490478
rs6490478
1 1.000 0.120 13 30702591 intergenic variant G/T snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs2293275
rs2293275
4 0.851 0.160 2 48694236 missense variant T/C snv 0.61 0.51 0.010 1.000 1 2012 2012
dbSNP: rs1872328
rs1872328
6 0.827 0.120 2 54168122 intron variant G/A snv 7.3E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 0
dbSNP: rs62283056
rs62283056
3 0.882 0.280 4 6274903 intron variant G/C snv 0.20 0.010 < 0.001 1 2018 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs7040024
rs7040024
4 0.925 0.120 9 845516 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs370432633
rs370432633
1 1.000 0.120 1 85267841 missense variant G/A snv 1.6E-05 0.700 0
dbSNP: rs755383
rs755383
7 0.807 0.120 9 863635 intron variant C/T snv 0.54 0.700 1.000 1 2011 2011
dbSNP: rs7486184
rs7486184
1 1.000 0.120 12 88453224 regulatory region variant A/G;T snv 0.700 1.000 2 2009 2011
dbSNP: rs995030
rs995030
9 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 0.710 0.667 3 2009 2016
dbSNP: rs1472899
rs1472899
1 1.000 0.120 12 88557708 intron variant C/T snv 0.65 0.700 1.000 2 2009 2011