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
108 0.520 0.714 7 87509329 synonymous variant A/G,T snp 0.50 0.56 0.030 1.000 3 2009 2013
dbSNP: rs1801019
rs1801019
4 0.878 0.071 3 124737895 missense variant G/A,C snp 4.0E-06; 0.19 0.17 0.020 1.000 2 2007 2011
dbSNP: rs2231142
rs2231142
29 0.642 0.464 4 88131171 missense variant G/C,T snp 4.0E-06; 0.12 9.4E-02 0.020 1.000 2 2007 2009
dbSNP: rs67376798
rs67376798
6 0.923 0.036 1 97082391 missense variant T/A snp 2.8E-03 3.2E-03 0.020 1.000 2 2015 2015
dbSNP: rs1042597
rs1042597
2 2 233618225 missense variant C/G,T snp 0.27; 4.0E-06 0.21; 3.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs10474485
rs10474485
2 1.000 0.036 5 76975028 intron variant C/A snp 0.26 0.010 1.000 1 2016 2016
dbSNP: rs1128503
rs1128503
28 0.642 0.536 7 87550285 synonymous variant A/G snp 0.54 0.61 0.010 1.000 1 2011 2011
dbSNP: rs1137101
rs1137101
41 0.605 0.679 1 65592830 missense variant A/G snp 0.51 0.53 0.010 1.000 1 2015 2015
dbSNP: rs121913507
rs121913507
KIT
35 0.638 0.286 4 54733155 missense variant A/T snp 0.010 1.000 1 2009 2009
dbSNP: rs17376848
rs17376848
1 1 97450068 synonymous variant A/G snp 5.1E-02 4.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs17868320
rs17868320
1 2 233669782 intron variant C/T snp 3.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs1801265
rs1801265
6 0.821 0.214 1 97883329 missense variant A/G snp 0.77 0.72 0.010 1.000 1 2015 2015
dbSNP: rs2032592
rs2032592
5 0.846 0.143 Y 12919473 3 prime UTR variant A/G snp 0.010 1.000 1 2011 2011
dbSNP: rs211105
rs211105
1 11 18033757 intron variant T/G snp 0.20 0.010 1.000 1 2015 2015
dbSNP: rs2244613
rs2244613
3 0.923 0.036 16 55810697 intron variant G/A,T snp 8.0E-06; 0.73 0.77 0.010 1.000 1 2015 2015
dbSNP: rs546983534
rs546983534
1 14 103708630 missense variant G/A snp 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs7548189
rs7548189
4 0.878 0.143 1 97402157 intron variant C/A snp 0.18 0.010 1.000 1 2016 2016
dbSNP: rs9351963
rs9351963
1 6 73040138 intron variant A/C snp 0.18 0.010 1.000 1 2015 2015