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: rs121913517
rs121913517
KIT
8 0.801 0.143 4 54727444 missense variant T/A,C,G snp 0.860 0.833 12 1998 2016
dbSNP: rs121908585
rs121908585
7 0.846 0.107 4 54285926 missense variant A/T snp 0.790 1.000 20 2003 2017
dbSNP: rs121913512
rs121913512
KIT
8 0.846 0.107 4 54728055 missense variant A/C,G snp 0.760 1.000 8 2001 2015
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.750 1.000 9 2002 2016
dbSNP: rs121913521
rs121913521
KIT
7 0.846 0.071 4 54727447 missense variant T/A,C,G snp 0.730 0.667 7 1999 2016
dbSNP: rs121913513
rs121913513
KIT
9 0.769 0.143 4 54727495 missense variant T/C snp 0.730 1.000 4 2006 2017
dbSNP: rs121913523
rs121913523
KIT
2 1.000 0.036 4 54728092 missense variant T/A,C snp 0.720 0.500 9 2005 2015
dbSNP: rs121908586
rs121908586
4 4 54274869 missense variant T/A,C snp 0.720 1.000 8 2003 2015
dbSNP: rs121913265
rs121913265
2 1.000 0.071 4 54285925 missense variant G/T snp 0.720 1.000 4 2004 2015
dbSNP: rs121913235
rs121913235
KIT
3 0.923 0.071 4 54727437 stop lost T/A,C,G snp 0.710 1.000 8 1999 2017
dbSNP: rs121913516
rs121913516
KIT
3 1.000 0.071 4 54729353 missense variant C/T snp 4.0E-06 0.710 1.000 8 2004 2015
dbSNP: rs121913506
rs121913506
KIT
20 0.692 0.286 4 54733154 missense variant G/A,C,T snp 0.710 1.000 5 2005 2015
dbSNP: rs121913520
rs121913520
KIT
2 1.000 0.071 4 54727443 missense variant G/A snp 0.710 1.000 3 2007 2014
dbSNP: rs587782604
rs587782604
5 0.878 0.071 1 17022684 missense variant C/A,T snp 4.0E-06; 4.0E-06 0.700 13 2003 2017
dbSNP: rs786201095
rs786201095
5 0.878 0.143 1 17028643 missense variant A/C snp 1.2E-05 0.700 13 2005 2017
dbSNP: rs138996609
rs138996609
6 0.878 0.071 1 17022685 missense variant G/A snp 8.0E-06 0.700 11 2003 2017
dbSNP: rs74315366
rs74315366
5 0.878 0.071 1 17033078 stop gained G/A,C snp 8.0E-06 0.700 11 2001 2017
dbSNP: rs772551056
rs772551056
6 0.878 0.071 1 17044824 missense variant C/A,T snp 4.0E-06 0.700 11 2003 2017
dbSNP: rs786203251
rs786203251
5 0.878 0.071 1 17022649 stop gained G/A,T snp 0.700 11 1992 2017
dbSNP: rs397516836
rs397516836
5 0.878 0.071 1 17024015 stop gained C/A,T snp 0.700 9 2007 2017
dbSNP: rs587776653
rs587776653
6 0.846 0.143 1 161356841 splice donor variant G/A,C,T snp 8.0E-06 0.700 9 2003 2017
dbSNP: rs267607032
rs267607032
5 0.878 0.071 1 17028605 stop gained C/A snp 1.2E-05 0.700 8 2007 2017
dbSNP: rs74315368
rs74315368
6 0.878 0.071 1 17022648 missense variant C/T snp 1.2E-05 0.700 8 2002 2017
dbSNP: rs764575966
rs764575966
7 0.846 0.143 1 161356832 stop gained C/T snp 3.6E-05 3.2E-05 0.700 8 2007 2017
dbSNP: rs397516833
rs397516833
5 0.878 0.071 1 17028737 splice acceptor variant C/G snp 0.700 7 2007 2017