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: rs121909174
rs121909174
3 0.925 0.120 19 17881961 missense variant A/C snv 1.2E-05 0.010 1.000 1 1998 1998
dbSNP: rs138106763
rs138106763
2 1.000 0.040 7 100857102 missense variant A/G snv 7.2E-05 1.2E-04 0.010 1.000 1 1998 1998
dbSNP: rs866551255
rs866551255
2 1.000 0.040 6 36684145 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs1805007
rs1805007
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.010 1.000 1 2001 2001
dbSNP: rs35187787
rs35187787
6 0.827 0.120 16 68822063 missense variant G/A;T snv 3.3E-03; 2.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs11547328
rs11547328
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.020 0.500 2 2002 2003
dbSNP: rs771138120
rs771138120
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.020 0.500 2 2002 2003
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 1.000 1 2003 2003
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 1.000 1 2003 2003
dbSNP: rs121965039
rs121965039
OAT
6 0.851 0.160 10 124408601 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs146755810
rs146755810
OAT
4 0.882 0.080 10 124412125 missense variant C/G;T snv 2.4E-05; 3.2E-05 0.010 1.000 1 2003 2003
dbSNP: rs17227424
rs17227424
1 16 89738216 missense variant G/A;C snv 1.3E-05; 3.6E-02 0.010 1.000 1 2003 2003
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.030 1.000 3 2003 2005
dbSNP: rs188957694
rs188957694
6 0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05 0.010 1.000 1 2005 2005
dbSNP: rs3732379
rs3732379
38 0.637 0.680 3 39265765 missense variant C/T snv 0.22 0.22 0.010 < 0.001 1 2005 2005
dbSNP: rs486907
rs486907
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 1.000 1 2005 2005
dbSNP: rs4987188
rs4987188
11 0.790 0.200 2 47416318 missense variant G/A;T snv 1.3E-02; 2.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs74315364
rs74315364
13 0.732 0.200 1 182586014 stop gained C/A snv 3.6E-03; 4.0E-06 3.3E-03 0.010 1.000 1 2005 2005
dbSNP: rs746702110
rs746702110
38 0.627 0.480 3 9756778 missense variant C/T snv 1.2E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs34301344
rs34301344
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.020 1.000 2 2006 2006
dbSNP: rs755100942
rs755100942
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.020 1.000 2 2006 2006
dbSNP: rs1045485
rs1045485
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs13010627
rs13010627
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs1356083197
rs1356083197
2 1.000 0.040 1 224434068 missense variant C/T snv 1.5E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs201745983
rs201745983
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.010 1.000 1 2006 2006