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: rs104894226
rs104894226
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.710 1.000 3 2009 2014
dbSNP: rs121913685
rs121913685
KIT
4 0.882 0.080 4 54727443 inframe deletion TTGTTG/-;TTG delins 0.700 1.000 4 2004 2009
dbSNP: rs1057519704
rs1057519704
KIT
3 0.882 0.080 4 54727425 missense variant T/A snv 0.700 1.000 3 2011 2013
dbSNP: rs1057519711
rs1057519711
KIT
5 0.882 0.240 4 54733168 missense variant T/A snv 0.700 1.000 3 2007 2012
dbSNP: rs121913513
rs121913513
KIT
10 0.776 0.120 4 54727495 missense variant T/C snv 0.700 1.000 3 2007 2012
dbSNP: rs121913517
rs121913517
KIT
6 0.851 0.120 4 54727444 missense variant T/A;C;G snv 0.700 1.000 3 2003 2012
dbSNP: rs1057519701
rs1057519701
KIT
1 1.000 0.080 4 54725978 missense variant G/A snv 0.700 1.000 2 2011 2012
dbSNP: rs121913235
rs121913235
KIT
3 0.925 0.080 4 54727437 missense variant T/A;C;G snv 0.700 1.000 2 2003 2012
dbSNP: rs1131692239
rs1131692239
KIT
1 1.000 0.080 4 54727496 inframe deletion CTTATGATC/- delins 0.700 1.000 1 2011 2011
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
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: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1222380251
rs1222380251
3 0.925 0.080 5 56875147 missense variant A/T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1569686
rs1569686
15 0.752 0.400 20 32779273 intron variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2014 2014
dbSNP: rs727503094
rs727503094
41 0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv 0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2008 2008