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: rs1508595
rs1508595
5 0.851 0.240 12 88592239 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs4474514
rs4474514
6 0.827 0.240 12 88560182 intron variant G/A snv 0.65 0.700 1.000 1 2009 2009
dbSNP: rs4699052
rs4699052
3 0.925 0.200 4 103216633 intergenic variant C/T snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs11547328
rs11547328
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs771138120
rs771138120
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2003 2003
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 0