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: rs121913237
rs121913237
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121913459
rs121913459
16 0.707 0.143 9 130872896 missense variant C/T snp 0.010 1.000 1 2007 2007
dbSNP: rs121913514
rs121913514
KIT
9 0.784 0.214 4 54733174 stop gained T/A,G snp 0.010 1.000 1 2010 2010
dbSNP: rs121918460
rs121918460
11 0.756 0.214 12 112450364 stop lost T/A,G snp 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs147001633
rs147001633
6 0.846 0.143 2 25234373 missense variant C/A,G,T snp 4.0E-06; 4.0E-06; 2.2E-04 0.010 1.000 1 2014 2014
dbSNP: rs267601394
rs267601394
5 0.878 0.179 7 148811635 missense variant T/A,G snp 0.010 1.000 1 2014 2014
dbSNP: rs373667881
rs373667881
5 0.821 0.143 8 125431222 missense variant G/A,T snp 1.1E-03 4.8E-04 0.010 1.000 1 2012 2012
dbSNP: rs387907272
rs387907272
34 0.630 0.286 3 38141150 stop lost T/C snp 5.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs568887534
rs568887534
2 0.923 0.107 8 30183156 missense variant A/G snp 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs763160846
rs763160846
3 0.878 0.107 1 207887862 missense variant G/A snp 4.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.010 1.000 1 2010 2010
dbSNP: rs867229590
rs867229590
2 0.923 0.143 13 99870992 missense variant C/T snp 0.010 1.000 1 2016 2016