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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.857 14 2010 2019
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.050 0.800 5 2011 2017
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.040 1.000 4 2016 2019
dbSNP: rs351855
rs351855
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.030 1.000 3 2004 2015
dbSNP: rs758272654
rs758272654
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.030 1.000 3 2006 2010
dbSNP: rs1284806277
rs1284806277
MOK
13 0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 0.020 1.000 2 2011 2016
dbSNP: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.020 1.000 2 2018 2018
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.020 1.000 2 2014 2018
dbSNP: rs752021744
rs752021744
29 0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05 0.020 1.000 2 2011 2012
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.020 1.000 2 2012 2013
dbSNP: rs10009228
rs10009228
1 4 40354405 missense variant A/G snv 0.78 0.76 0.010 1.000 1 2012 2012
dbSNP: rs1042028
rs1042028
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 1.000 1 2019 2019
dbSNP: rs104893626
rs104893626
11 0.827 0.280 2 136114915 stop gained G/C snv 0.010 1.000 1 2014 2014
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.010 1.000 1 2005 2005
dbSNP: rs1057519771
rs1057519771
2 1.000 0.080 9 130872201 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2014 2014
dbSNP: rs11549467
rs11549467
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.010 1.000 1 2014 2014
dbSNP: rs11568818
rs11568818
15 0.763 0.280 11 102530930 upstream gene variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs11672691
rs11672691
3 0.925 0.080 19 41479679 non coding transcript exon variant G/A snv 0.42 0.010 1.000 1 2018 2018
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121917887
rs121917887
10 0.790 0.120 17 51161744 missense variant A/G snv 6.0E-05 7.0E-05 0.010 1.000 1 1995 1995
dbSNP: rs121918464
rs121918464
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs1273593548
rs1273593548
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.010 1.000 1 2014 2014