Source: ALL
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 0.800 0.979 477 2002 2020
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.800 0.981 464 2002 2020
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.800 1.000 54 2002 2020
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.800 1.000 32 1989 2019
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.800 1.000 30 1989 2019
dbSNP: rs121913254
rs121913254
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.780 1.000 21 1989 2016
dbSNP: rs121913517
rs121913517
KIT
6 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.700 1.000 18 1995 2014
dbSNP: rs121913513
rs121913513
KIT
10 0.776 0.120 4 54727495 missense variant T/C snv 0.760 1.000 17 1995 2016
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 0.941 17 2011 2019
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.800 1.000 16 2005 2019
dbSNP: rs1805007
rs1805007
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.800 0.938 16 2001 2019
dbSNP: rs121913378
rs121913378
11 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.710 1.000 15 2002 2014
dbSNP: rs121913235
rs121913235
KIT
3 0.925 0.080 4 54727437 missense variant T/A;C;G snv 0.700 1.000 14 1995 2012
dbSNP: rs121913366
rs121913366
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.720 1.000 14 1989 2017
dbSNP: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 13 1989 2014
dbSNP: rs121913368
rs121913368
2 0.925 0.040 7 140753345 missense variant AG/GA mnv 0.710 1.000 13 2002 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.100 0.833 12 2006 2019
dbSNP: rs121913369
rs121913369
12 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 1.000 12 2002 2014
dbSNP: rs121913492
rs121913492
11 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.740 1.000 12 1989 2018
dbSNP: rs11547328
rs11547328
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.100 1.000 11 1997 2016
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.740 1.000 11 1989 2016
dbSNP: rs104894094
rs104894094
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.800 1.000 10 1999 2016
dbSNP: rs1057519710
rs1057519710
KIT
22 0.695 0.280 4 54733166 missense variant G/C;T snv 0.710 1.000 10 1995 2013
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.900 10 2006 2017
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 10 1989 2014