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: rs137853078
rs137853078
3 0.925 0.120 19 1220396 missense variant G/A snv 0.700 1.000 3 1998 2008
dbSNP: rs2195987
rs2195987
1 1.000 0.120 19 23966743 intergenic variant C/G;T snv 0.700 1.000 3 2015 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: rs8046148
rs8046148
2 1.000 0.120 16 50109033 intron variant A/G;T snv 0.800 1.000 3 2013 2017
dbSNP: rs1508595
rs1508595
5 0.851 0.240 12 88592239 intron variant G/A;T snv 0.700 1.000 2 2013 2013
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: rs7040024
rs7040024
4 0.925 0.120 9 845516 intron variant A/C;G snv 0.700 1.000 2 2017 2017
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2020 2020
dbSNP: rs17689040
rs17689040
1 1.000 0.120 7 40880714 intergenic variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs4599029
rs4599029
1 1.000 0.120 19 53781435 intergenic variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs4862848
rs4862848
1 1.000 0.120 4 188000286 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs56046484
rs56046484
1 1.000 0.120 15 85062196 intron variant G/A;C;T snv 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: rs7107174
rs7107174
1 1.000 0.120 11 78286890 intron variant C/G;T snv 0.710 1.000 1 2015 2015
dbSNP: rs7404843
rs7404843
1 1.000 0.120 16 15436851 intron variant T/A;G snv 0.700 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: 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: rs8025374
rs8025374
1 1.000 0.120 15 51226173 intron variant T/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs9966612
rs9966612
1 1.000 0.120 18 649311 intron variant A/C;G snv 0.700 1.000 1 2017 2017
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: rs1355972653
rs1355972653
3 0.882 0.120 21 33415009 synonymous variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2007 2007