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: rs4561483
rs4561483
1 1.000 0.107 16 11826180 intron variant A/G,T snp 0.66 0.710 1.000 3 2016 2017
dbSNP: rs9905704
rs9905704
2 0.923 0.107 17 58555182 intron variant G/T snp 0.78 0.710 1.000 3 2013 2017
dbSNP: rs10510452
rs10510452
2 0.923 0.107 3 16583541 intergenic variant A/G snp 0.21 0.700 3 2016 2017
dbSNP: rs137853078
rs137853078
10 0.769 0.107 19 1220396 missense variant G/A snp 0.700 3 1998 2010
dbSNP: rs2072499
rs2072499
2 0.923 0.107 1 156199819 non coding transcript exon variant A/G snp 0.34 0.43 0.700 3 2016 2017
dbSNP: rs2195987
rs2195987
1 1.000 0.107 19 23966743 intergenic variant C/G,T snp 0.84 0.700 3 2016 2017
dbSNP: rs2720460
rs2720460
2 0.923 0.107 4 103133529 intron variant A/G snp 0.36 0.700 3 2016 2017
dbSNP: rs3790672
rs3790672
2 0.923 0.107 1 165904155 non coding transcript exon variant T/C snp 0.24 0.700 3 2016 2017
dbSNP: rs55637647
rs55637647
1 1.000 0.107 16 88482856 intron variant C/G snp 0.45 0.700 3 2016 2017
dbSNP: rs7501939
rs7501939
12 0.769 0.179 17 37741165 intron variant C/T snp 0.60 0.700 3 2016 2017
dbSNP: rs11705932
rs11705932
1 1.000 0.107 3 142100008 intron variant C/T snp 0.21 0.700 2 2016 2017
dbSNP: rs121913514
rs121913514
KIT
9 0.784 0.214 4 54733174 stop gained T/A,G snp 0.700 2 2006 2007
dbSNP: rs12699477
rs12699477
2 0.923 0.107 7 1929317 intron variant T/C snp 0.28 0.700 2 2017 2017
dbSNP: rs1510272
rs1510272
1 1.000 0.107 3 156582935 intergenic variant C/T snp 0.25 0.700 2 2017 2017
dbSNP: rs210138
rs210138
4 0.878 0.143 6 33574761 intron variant A/G snp 0.18 0.700 2 2017 2017
dbSNP: rs2736100
rs2736100
52 0.596 0.571 5 1286401 intron variant C/A snp 0.53 0.700 2 2017 2017
dbSNP: rs2900333
rs2900333
3 0.923 0.107 12 14500933 3 prime UTR variant C/A,G,T snp 1.3E-04; 0.26 0.700 2 2017 2017
dbSNP: rs3782181
rs3782181
2 0.923 0.107 12 88559784 intron variant C/A snp 0.66 0.700 2 2017 2017
dbSNP: rs4624820
rs4624820
3 0.923 0.107 5 142302223 intergenic variant G/A snp 0.53 0.700 2 2017 2017
dbSNP: rs4888262
rs4888262
2 0.923 0.107 16 74636560 synonymous variant C/T snp 0.54 0.58 0.700 2 2017 2017
dbSNP: rs7010162
rs7010162
2 0.923 0.107 8 70064270 intron variant C/T snp 3.2E-05; 0.52 0.700 2 2017 2017
dbSNP: rs7040024
rs7040024
2 0.923 0.107 9 845516 intron variant A/C,G snp 0.25 0.700 2 2017 2017
dbSNP: rs757545210
rs757545210
7 0.784 0.107 5 172105697 missense variant T/C snp 0.700 2 2006 2007
dbSNP: rs8046148
rs8046148
2 0.923 0.107 16 50109033 intron variant A/G,T snp 0.78 0.700 2 2017 2017
dbSNP: rs1009647
rs1009647
2 1.000 0.107 14 55413329 intergenic variant G/A snp 0.25 0.700 1 2017 2017