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: 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 0.030 1.000 3 2014 2019
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 2013 2019
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.020 1.000 2 2014 2020
dbSNP: rs10251201
rs10251201
4 0.851 0.160 7 7932654 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs10405859
rs10405859
3 0.882 0.080 19 45099523 intron variant T/C snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs1190999960
rs1190999960
9 0.807 0.240 11 65571690 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1217007648
rs1217007648
1 1.000 0.080 8 42306376 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs121912472
rs121912472
2 0.925 0.080 9 5073742 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs121913459
rs121913459
25 0.672 0.160 9 130872896 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.010 1.000 1 2010 2010
dbSNP: rs1250394819
rs1250394819
9 0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1483790387
rs1483790387
2 0.925 0.120 5 115625762 missense variant C/A snv 0.010 1.000 1 2014 2014
dbSNP: rs2239630
rs2239630
6 0.925 0.160 14 23120140 upstream gene variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2004 2004
dbSNP: rs267601394
rs267601394
8 0.807 0.200 7 148811635 missense variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs371769427
rs371769427
24 0.683 0.400 21 43104346 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs373667881
rs373667881
5 0.827 0.160 8 125431222 missense variant G/A;T snv 1.1E-03 0.010 1.000 1 2012 2012
dbSNP: rs377577594
rs377577594
7 0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs397507510
rs397507510
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs568887534
rs568887534
9 0.807 0.240 8 30183156 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs757412228
rs757412228
2 0.925 0.080 21 34886917 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs9277378
rs9277378
5 0.827 0.320 6 33082502 intron variant A/G snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs9318227
rs9318227
3 0.882 0.080 13 73926833 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs974120
rs974120
4 0.851 0.200 8 2789080 intron variant T/C;G snv 0.010 1.000 1 2017 2017