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: rs1057519713
rs1057519713
KIT
3 0.925 0.120 4 54736498 missense variant G/C snv 0.700 0
dbSNP: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.700 0
dbSNP: rs757545210
rs757545210
1 1.000 0.120 5 172105697 missense variant T/C snv 0.700 0
dbSNP: rs4624820
rs4624820
5 0.851 0.240 5 142302223 regulatory region variant G/A snv 0.55 0.810 1.000 6 2009 2017
dbSNP: rs210138
rs210138
5 0.851 0.240 6 33574761 intron variant A/G snv 0.19 0.800 1.000 5 2009 2017
dbSNP: rs995030
rs995030
9 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 0.720 1.000 5 2009 2019
dbSNP: rs10510452
rs10510452
2 1.000 0.120 3 16583541 downstream gene variant A/G snv 0.22 0.800 1.000 4 2013 2017
dbSNP: rs2072499
rs2072499
3 1.000 0.120 1 156199819 non coding transcript exon variant A/G snv 0.34 0.43 0.800 1.000 4 2013 2017
dbSNP: rs2720460
rs2720460
2 1.000 0.120 4 103133529 intron variant A/G snv 0.35 0.800 1.000 4 2013 2017
dbSNP: rs3790672
rs3790672
2 1.000 0.120 1 165904155 non coding transcript exon variant T/C snv 0.24 0.800 1.000 4 2013 2017
dbSNP: rs9905704
rs9905704
2 1.000 0.120 17 58555182 intron variant G/T snv 0.77 0.810 1.000 4 2013 2017
dbSNP: rs12699477
rs12699477
2 1.000 0.120 7 1929317 intron variant T/C snv 0.28 0.800 1.000 3 2013 2017
dbSNP: rs137853078
rs137853078
3 0.925 0.120 19 1220396 missense variant G/A snv 0.700 1.000 3 1998 2008
dbSNP: rs17021463
rs17021463
2 1.000 0.120 4 94303661 intron variant T/G snv 0.57 0.800 1.000 3 2013 2017
dbSNP: rs2195987
rs2195987
1 1.000 0.120 19 23966743 intergenic variant C/G;T snv 0.700 1.000 3 2015 2017
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.800 1.000 3 2013 2017
dbSNP: rs2900333
rs2900333
6 0.882 0.200 12 14500933 3 prime UTR variant C/A;G;T snv 0.800 1.000 3 2013 2017
dbSNP: rs4561483
rs4561483
1 1.000 0.120 16 11826180 intron variant A/G;T snv 0.710 1.000 3 2015 2017
dbSNP: rs4888262
rs4888262
2 1.000 0.120 16 74636560 synonymous variant C/T snv 0.54 0.59 0.800 1.000 3 2013 2017
dbSNP: rs55637647
rs55637647
1 1.000 0.120 16 88482856 intron variant C/G snv 0.47 0.710 1.000 3 2015 2017
dbSNP: rs7010162
rs7010162
2 1.000 0.120 8 70064270 intron variant C/T snv 0.52 0.800 1.000 3 2013 2017
dbSNP: rs7501939
rs7501939
12 0.776 0.280 17 37741165 intron variant C/T snv 0.41 0.700 1.000 3 2015 2017
dbSNP: rs755383
rs755383
7 0.807 0.120 9 863635 intron variant C/T snv 0.54 0.800 1.000 3 2013 2017
dbSNP: rs8046148
rs8046148
2 1.000 0.120 16 50109033 intron variant A/G;T snv 0.800 1.000 3 2013 2017
dbSNP: rs11705932
rs11705932
1 1.000 0.120 3 142100008 intron variant C/T snv 0.20 0.710 1.000 2 2015 2017