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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 < 0.001 2 2012 2016
dbSNP: rs387906666
rs387906666
CBL
5 0.827 0.080 11 119278182 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.040 1.000 4 2011 2018
dbSNP: rs3822214
rs3822214
KIT
13 0.732 0.240 4 54727298 missense variant A/C;G;T snv 7.7E-02; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 1.000 7 2001 2016
dbSNP: rs1408538785
rs1408538785
6 0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs17886724
rs17886724
2 0.925 0.040 17 42344145 intron variant A/G snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2014 2014
dbSNP: rs201045130
rs201045130
2 0.925 0.040 1 39659467 missense variant A/G snv 9.9E-05 1.0E-04 0.010 1.000 1 2016 2016
dbSNP: rs762613037
rs762613037
7 0.790 0.160 21 45512196 missense variant A/G snv 2.1E-05 7.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.040 1.000 4 2007 2018
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2012 2013
dbSNP: rs10931910
rs10931910
2 0.925 0.040 2 200659013 intron variant A/G;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs562015640
rs562015640
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2013 2013
dbSNP: rs6413463
rs6413463
1 1.000 0.040 9 21970990 missense variant A/G;T snv 2.9E-05; 3.0E-04 0.700 0
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.040 1.000 4 2007 2018
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2014 2016
dbSNP: rs1057519753
rs1057519753
9 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs10740055
rs10740055
7 0.790 0.240 10 61958720 intron variant C/A snv 0.49 0.010 1.000 1 2019 2019
dbSNP: rs1470755915
rs1470755915
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs927698341
rs927698341
10 0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 0.010 < 0.001 1 2011 2011
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.020 1.000 2 2011 2014
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2014 2016