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: rs2476601
rs2476601
76 0.547 0.750 1 113834946 missense variant A/G snp 0.93 0.92 0.010 1.000 1 2015 2015
dbSNP: rs112445441
rs112445441
17 0.699 0.286 12 25245347 missense variant snp 0.010 1.000 1 2010 2010
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1569686
rs1569686
7 0.784 0.214 20 32779273 intron variant G/A,C,T snp 0.56 0.010 1.000 1 2014 2014
dbSNP: rs77375493
rs77375493
106 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs104894226
rs104894226
19 0.692 0.464 11 534285 missense variant C/A,G,T snp 0.710 1.000 3 2010 2015
dbSNP: rs727503094
rs727503094
6 0.821 0.143 11 534287 stop gained GC/TA,AG,AT,TT multinucleotide-polymorphism 0.010 1.000 1 2010 2010
dbSNP: rs104894230
rs104894230
42 0.615 0.464 11 534288 missense variant C/A,G,T snp 0.010 1.000 1 2010 2010
dbSNP: rs1057519701
rs1057519701
KIT
1 1.000 0.071 4 54725978 missense variant G/A snp 0.700 2 2011 2012
dbSNP: rs1057519704
rs1057519704
KIT
2 0.923 0.071 4 54727425 stop lost T/A snp 0.700 3 2011 2013
dbSNP: rs121913235
rs121913235
KIT
3 0.923 0.071 4 54727437 stop lost T/A,C,G snp 0.700 2 2004 2012
dbSNP: rs121913685
rs121913685
KIT
3 0.923 0.071 4 54727443 inframe deletion GGTT/G in-del 0.700 4 2004 2010
dbSNP: rs121913517
rs121913517
KIT
8 0.801 0.143 4 54727444 missense variant T/A,C,G snp 0.700 3 2004 2012
dbSNP: rs121913513
rs121913513
KIT
9 0.769 0.143 4 54727495 missense variant T/C snp 0.700 3 2007 2012
dbSNP: rs1131692239
rs1131692239
KIT
1 1.000 0.071 4 54727498 inframe deletion CCTTATGATC/C in-del 0.700 1 2011 2011
dbSNP: rs1057519711
rs1057519711
KIT
1 1.000 0.071 4 54733168 missense variant T/A snp 0.700 3 2007 2012
dbSNP: rs121434569
rs121434569
29 0.667 0.321 7 55181378 missense variant C/T snp 2.8E-05 9.6E-05 0.010 1.000 1 2014 2014