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: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.080 1.000 8 2005 2019
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1464681682
rs1464681682
6 0.882 0.160 21 6486334 missense variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs371246226
rs371246226
8 0.827 0.160 21 43094667 missense variant T/C;G snv 2.4E-05; 2.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs371769427
rs371769427
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs559063155
rs559063155
14 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 0.010 1.000 1 2013 2013
dbSNP: rs587779821
rs587779821
ATM
2 1.000 0.080 11 108259059 missense variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs61752717
rs61752717
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs116519313
rs116519313
1 1.000 0.080 4 105276128 missense variant T/C;G snv 1.3E-05 0.700 0
dbSNP: rs1283441077
rs1283441077
1 1.000 0.080 4 105276331 missense variant C/T snv 6.4E-06 0.700 0
dbSNP: rs1316795626
rs1316795626
1 1.000 0.080 4 105276287 missense variant G/A snv 6.4E-06 0.700 0
dbSNP: rs1406914931
rs1406914931
1 1.000 0.080 4 105276431 missense variant G/T snv 0.700 0
dbSNP: rs147001633
rs147001633
15 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.700 0
dbSNP: rs1554481435
rs1554481435
1 1.000 0.080 7 148809351 missense variant C/T snv 0.700 0
dbSNP: rs377577594
rs377577594
7 0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06 0.700 0
dbSNP: rs569067880
rs569067880
2 0.925 0.080 4 105234864 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs749210253
rs749210253
1 1.000 0.080 4 105272630 missense variant G/A;T snv 3.8E-05; 6.4E-06 0.700 0
dbSNP: rs761064473
rs761064473
1 1.000 0.080 2 25240717 missense variant C/G;T snv 1.2E-05 0.700 0
dbSNP: rs771761785
rs771761785
1 1.000 0.080 4 105243757 missense variant G/A;C snv 6.4E-06 0.700 0
dbSNP: rs754215085
rs754215085
1 1.000 0.080 4 105276407 missense variant G/A snv 5.7E-05 1.4E-05 0.700 0