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: rs148943384
rs148943384
2 1.000 0.040 9 6254467 missense variant G/A snv 2.9E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4431128
rs4431128
2 1.000 0.040 3 128532835 TF binding site variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs754092062
rs754092062
2 1.000 0.040 4 54258785 missense variant C/T snv 6.0E-05 9.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs12619285
rs12619285
3 1.000 0.040 2 212959321 intron variant A/G snv 0.31 0.010 1.000 1 2010 2010
dbSNP: rs1060500091
rs1060500091
4 0.882 0.120 3 128481887 missense variant A/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1217371203
rs1217371203
4 0.882 0.120 3 122106342 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs4143832
rs4143832
4 0.925 0.080 5 132527285 intron variant T/G snv 0.76 0.010 1.000 1 2010 2010
dbSNP: rs587782477
rs587782477
APC
4 0.882 0.120 5 112775679 missense variant A/T snv 0.010 1.000 1 2001 2001
dbSNP: rs121917894
rs121917894
5 0.851 0.160 11 36593483 missense variant C/A;T snv 8.0E-06; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2416257
rs2416257
5 0.882 0.160 5 111099792 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs941934
rs941934
5 0.851 0.200 1 152417976 intron variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs37973
rs37973
7 0.807 0.280 7 7968245 intron variant G/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs938448224
rs938448224
7 0.807 0.160 17 42207711 missense variant T/G snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1420101
rs1420101
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.010 1.000 1 2010 2010
dbSNP: rs2269426
rs2269426
10 0.807 0.280 6 32108722 intron variant G/A snv 0.35 0.010 1.000 1 2010 2010
dbSNP: rs9494145
rs9494145
11 0.925 0.080 6 135111414 intergenic variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs3939286
rs3939286
12 0.776 0.360 9 6210099 regulatory region variant T/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs1555257073
rs1555257073
25 0.827 0.120 13 28672407 frameshift variant AT/- delins 0.700 0
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.020 1.000 2 2007 2015
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.020 1.000 2 2007 2015
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015