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: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1057519704
rs1057519704
KIT
3 0.882 0.080 4 54727425 missense variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519711
rs1057519711
KIT
5 0.882 0.240 4 54733168 missense variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs121913513
rs121913513
KIT
10 0.776 0.120 4 54727495 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1324255598
rs1324255598
1 1.000 0.080 17 39725780 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs763308199
rs763308199
KIT
1 1.000 0.080 4 54729433 missense variant C/A;T snv 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs727503094
rs727503094
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2009 2009