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: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.730 1.000 8 1999 2018
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 1.000 5 1999 2014
dbSNP: rs121913509
rs121913509
KIT
2 1.000 0.080 4 54736528 missense variant G/A snv 0.700 1.000 5 1999 2014
dbSNP: rs1057519709
rs1057519709
KIT
2 0.925 0.080 4 54733154 missense variant GA/AT mnv 0.700 0
dbSNP: rs121913517
rs121913517
KIT
6 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.700 0
dbSNP: rs753212327
rs753212327
KIT
1 1.000 0.080 4 54727275 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.030 1.000 3 1999 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2016 2016
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 2016 2016
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121912654
rs121912654
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2016 2016
dbSNP: rs371055548
rs371055548
2 0.925 0.080 16 89919798 synonymous variant C/T snv 2.4E-05 2.1E-05 0.010 1.000 1 2008 2008
dbSNP: rs776878433
rs776878433
2 0.925 0.160 9 128566833 synonymous variant A/G snv 2.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2016 2016
dbSNP: rs993022333
rs993022333
KIT
5 0.851 0.080 4 54733173 missense variant A/C;T snv 0.010 1.000 1 2011 2011