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: rs764575966
rs764575966
8 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.700 1.000 7 2007 2016
dbSNP: rs397516833
rs397516833
5 0.882 0.080 1 17028737 splice acceptor variant C/G snv 0.700 1.000 6 2007 2016
dbSNP: rs398122805
rs398122805
6 0.851 0.120 1 17028599 splice donor variant C/G;T snv 1.2E-05 0.700 1.000 6 2006 2014
dbSNP: rs587776653
rs587776653
7 0.827 0.160 1 161356841 splice donor variant G/A;C;T snv 8.0E-06 0.700 1.000 6 2003 2014
dbSNP: rs74315368
rs74315368
5 0.882 0.080 1 17022648 missense variant C/T snv 1.2E-05 1.4E-05 0.700 1.000 6 2002 2015
dbSNP: rs786202100
rs786202100
4 0.925 0.080 1 17044791 frameshift variant GAGGT/- delins 0.700 1.000 6 2004 2014
dbSNP: rs1060502543
rs1060502543
KIT
1 4 54727501 inframe deletion GAT/- delins 0.700 1.000 5 1998 2015
dbSNP: rs1060503757
rs1060503757
5 0.882 0.080 1 17024024 frameshift variant G/- delins 0.700 1.000 5 2005 2013
dbSNP: rs201286421
rs201286421
5 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 5 2008 2014
dbSNP: rs751000085
rs751000085
4 0.882 0.080 1 17028680 stop gained G/A;C snv 8.0E-06 0.700 1.000 5 2006 2017
dbSNP: rs786201063
rs786201063
5 0.882 0.080 1 17033059 splice donor variant C/T snv 0.700 1.000 5 2006 2016
dbSNP: rs786201161
rs786201161
5 0.882 0.080 1 17024076 splice acceptor variant T/C snv 0.700 1.000 5 2007 2014
dbSNP: rs202101384
rs202101384
6 0.851 0.160 1 17044818 missense variant T/A snv 4.4E-05 1.4E-05 0.700 1.000 4 2012 2017
dbSNP: rs587778661
rs587778661
4 0.925 0.080 1 161328466 missense variant C/T snv 7.0E-06 0.700 1.000 4 2009 2016
dbSNP: rs587781270
rs587781270
5 0.882 0.080 1 17033058 splice donor variant A/T snv 0.700 1.000 4 2006 2012
dbSNP: rs1057519713
rs1057519713
KIT
3 0.925 0.120 4 54736498 missense variant G/C snv 0.700 1.000 3 2007 2013
dbSNP: rs1057519761
rs1057519761
KIT
2 4 54733175 missense variant T/G snv 0.700 1.000 3 2007 2013
dbSNP: rs121913264
rs121913264
1 4 54285925 missense variant GA/AT mnv 0.700 1.000 3 2006 2014
dbSNP: rs121913514
rs121913514
KIT
12 0.763 0.240 4 54733174 missense variant T/A;G snv 0.700 1.000 3 2005 2014
dbSNP: rs1560418178
rs1560418178
KIT
1 4 54727909 missense variant G/A snv 0.700 1.000 3 1995 2007
dbSNP: rs397516835
rs397516835
4 0.925 0.080 1 17024040 missense variant C/G;T snv 0.700 1.000 3 2002 2012
dbSNP: rs587782243
rs587782243
5 0.882 0.080 1 17033060 missense variant C/T snv 1.2E-05 7.0E-06 0.700 1.000 3 1990 2013
dbSNP: rs762812025
rs762812025
4 0.882 0.080 1 17022689 frameshift variant CT/- delins 4.0E-06 0.700 1.000 3 2004 2014
dbSNP: rs993022333
rs993022333
KIT
5 0.851 0.080 4 54733173 missense variant A/C;T snv 0.700 1.000 3 2007 2013
dbSNP: rs1057519708
rs1057519708
KIT
2 1.000 0.040 4 54728096 missense variant T/A;G snv 0.700 1.000 2 2007 2011