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: rs121918546
rs121918546
2 0.923 0.071 5 143041855 missense variant A/C,G snp 4.3E-06; 4.3E-06 9.6E-05 0.800 1 2000 2000
dbSNP: rs727504426
rs727504426
CBL
2 0.923 0.071 11 119278508 splice acceptor variant A/G snp 0.700 5 2009 2013
dbSNP: rs387906666
rs387906666
CBL
3 0.878 0.071 11 119278182 missense variant A/G snp 3.2E-05 0.710 1.000 1 2015 2015
dbSNP: rs776906066
rs776906066
1 1.000 0.071 11 119206455 missense variant G/A snp 0.010 1.000 1 2012 2012
dbSNP: rs746540053
rs746540053
1 1.000 0.071 1 207911034 missense variant C/T snp 0.010 1.000 1 2015 2015
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 2006 2006
dbSNP: rs1057519710
rs1057519710
KIT
8 0.784 0.214 4 54733166 missense variant G/C,T snp 0.010 1.000 1 2017 2017
dbSNP: rs121913506
rs121913506
KIT
20 0.692 0.286 4 54733154 missense variant G/A,C,T snp 0.010 1.000 1 2017 2017
dbSNP: rs121913529
rs121913529
70 0.559 0.393 12 25245350 missense variant C/A,G,T snp 4.0E-06 0.820 1.000 17 1993 2015
dbSNP: rs112445441
rs112445441
17 0.699 0.286 12 25245347 missense variant snp 0.810 1.000 5 1987 2016
dbSNP: rs121913530
rs121913530
39 0.615 0.321 12 25245351 missense variant C/A,G,T snp 0.810 1.000 3 1995 2012
dbSNP: rs267606602
rs267606602
NF1
2 0.923 0.143 17 31221842 splice region variant A/G snp 0.700 2 1997 1998
dbSNP: rs137854555
rs137854555
NF1
2 0.923 0.143 17 31261810 stop gained G/A snp 0.700 1 1997 1997
dbSNP: rs786201367
rs786201367
NF1
6 0.821 0.250 17 31357308 stop gained C/T snp 0.700 1 2015 2015
dbSNP: rs121434596
rs121434596
18 0.707 0.357 1 114716123 missense variant C/A,G,T snp 4.0E-06; 4.0E-06 0.810 1.000 7 1985 2012
dbSNP: rs121913237
rs121913237
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.810 1.000 4 2007 2013
dbSNP: rs121434595
rs121434595
19 0.692 0.357 1 114716124 missense variant C/A,G,T snp 0.010 1.000 1 2012 2012
dbSNP: rs121913250
rs121913250
14 0.724 0.286 1 114716127 missense variant C/A,G,T snp 0.010 1.000 1 2012 2012
dbSNP: rs397507510
rs397507510
6 0.801 0.250 12 112450361 stop gained G/A,C,T snp 0.800 20 2003 2015
dbSNP: rs121918465
rs121918465
7 0.821 0.179 12 112450407 missense variant A/C,G,T snp 0.800 13 2003 2017
dbSNP: rs121918464
rs121918464
15 0.756 0.321 12 112450406 missense variant G/A,C snp 0.830 1.000 5 2003 2016
dbSNP: rs121918454
rs121918454
11 0.756 0.286 12 112450395 missense variant C/A,G,T snp 0.800 2 2003 2015
dbSNP: rs121918462
rs121918462
7 0.784 0.286 12 112450398 missense variant C/T snp 0.710 1.000 2 2015 2015
dbSNP: rs121918453
rs121918453
11 0.756 0.286 12 112450394 missense variant G/A,C,T snp 0.700 1 2003 2003
dbSNP: rs121918455
rs121918455
6 0.801 0.250 12 112477720 missense variant A/C,G snp 0.700 1 2015 2015