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: rs375526265
rs375526265
3 14 20457260 missense variant C/T snv 1.2E-05 2.8E-05 0.030 1.000 3 2001 2017
dbSNP: rs1057519823
rs1057519823
1 15 66481830 missense variant T/C snv 0.700 1.000 2 2009 2013
dbSNP: rs1201894677
rs1201894677
1 6 43770833 missense variant G/A snv 1.6E-05 0.020 1.000 2 2015 2015
dbSNP: rs1610216
rs1610216
1 16 56608372 upstream gene variant A/G snv 0.30 0.020 1.000 2 2014 2015
dbSNP: rs16861205
rs16861205
3 3 186843845 intron variant G/A snv 0.14 0.020 1.000 2 2011 2013
dbSNP: rs730880502
rs730880502
1 15 66436762 missense variant T/A;G snv 0.700 1.000 2 2009 2013
dbSNP: rs773686816
rs773686816
1 5 68295271 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs774905136
rs774905136
1 7 55156555 synonymous variant T/C snv 5.6E-05 1.4E-05 0.020 1.000 2 2014 2016
dbSNP: rs1003129577
rs1003129577
1 3 39094706 missense variant G/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1020833107
rs1020833107
1 9 132398145 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs10269422
rs10269422
1 7 18814978 intron variant T/A snv 0.46 0.010 1.000 1 2014 2014
dbSNP: rs1041326
rs1041326
1 9 87541931 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs1045315350
rs1045315350
1 21 45456344 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1051554521
rs1051554521
1 5 151128211 missense variant G/A snv 2.0E-04 7.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs1056719
rs1056719
1 9 87707108 missense variant G/A snv 0.67 0.59 0.010 1.000 1 2007 2007
dbSNP: rs1057519761
rs1057519761
KIT
2 4 54733175 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519817
rs1057519817
1 12 56088073 missense variant C/A;G snv 4.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1057519820
rs1057519820
1 15 66436810 missense variant A/C snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519821
rs1057519821
1 15 66436814 missense variant G/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1057519827
rs1057519827
2 6 152011697 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1057519836
rs1057519836
2 3 41224630 missense variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519839
rs1057519839
1 5 68295257 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519840
rs1057519840
1 5 68295257 inframe deletion GACAAACGTATGAACAGC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519842
rs1057519842
1 5 68295304 inframe deletion CGA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057519843
rs1057519843
APC
1 5 112839522 frameshift variant AAGATTGGAAC/- del 0.700 1.000 1 2014 2014