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: 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: 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: rs4240895
rs4240895
1 1.000 0.120 1 9653328 non coding transcript exon variant C/T snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs17198432
rs17198432
1 1.000 0.120 2 175524333 intergenic variant C/A snv 8.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs2713206
rs2713206
1 1.000 0.120 2 121250365 intron variant C/T snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs7568069
rs7568069
2 1.000 0.120 2 71357355 intron variant G/A snv 0.48 0.010 1.000 1 2017 2017
dbSNP: rs7581030
rs7581030
1 1.000 0.120 2 71345325 intron variant C/G;T snv 0.700 1.000 1 2017 2017
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: rs11705932
rs11705932
1 1.000 0.120 3 142100008 intron variant C/T snv 0.20 0.710 1.000 2 2015 2017
dbSNP: rs1510272
rs1510272
1 1.000 0.120 3 156582935 regulatory region variant C/T snv 0.25 0.700 1.000 2 2017 2017
dbSNP: rs3755605
rs3755605
1 1.000 0.120 3 170038331 non coding transcript exon variant C/T snv 0.46 0.700 1.000 1 2017 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: rs17021463
rs17021463
2 1.000 0.120 4 94303661 intron variant T/G snv 0.57 0.800 1.000 3 2013 2017
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: rs4862848
rs4862848
1 1.000 0.120 4 188000286 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs6821144
rs6821144
1 1.000 0.120 4 75595467 intron variant G/A snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs6837349
rs6837349
1 1.000 0.120 4 188000201 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.700 1.000 1 2009 2009
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: 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: 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: rs4635969
rs4635969
7 0.827 0.160 5 1308437 downstream gene variant G/A;T snv 0.800 1.000 2 2013 2017
dbSNP: rs11205
rs11205
1 1.000 0.120 5 119526018 missense variant A/G snv 0.42 0.41 0.010 1.000 1 2010 2010
dbSNP: rs3805663
rs3805663
2 1.000 0.120 5 135030510 intron variant A/G snv 0.49 0.700 1.000 1 2013 2013