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: rs1057520014
rs1057520014
1 5 150073480 missense variant C/A snv 0.700 1.000 1 1990 1990
dbSNP: rs121913390
rs121913390
2 5 150073481 stop gained A/G;T snv 0.700 1.000 1 1990 1990
dbSNP: rs121913393
rs121913393
2 5 150054083 missense variant A/G snv 0.700 1.000 1 1990 1990
dbSNP: rs1801271
rs1801271
2 5 150054082 missense variant T/A;C snv 0.700 1.000 1 1990 1990
dbSNP: rs121913512
rs121913512
KIT
9 0.851 0.120 4 54728055 missense variant A/C;G snv 0.700 1.000 1 2001 2001
dbSNP: rs61754966
rs61754966
NBN
23 0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03 0.010 1.000 1 2004 2004
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 1.000 1 2006 2006
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs3745274
rs3745274
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 1.000 1 2006 2006
dbSNP: rs104894226
rs104894226
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs1114167651
rs1114167651
2 1.000 0.160 10 87933107 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121434596
rs121434596
26 0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs121918453
rs121918453
19 0.732 0.280 12 112450394 missense variant G/A;C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121918454
rs121918454
17 0.742 0.280 12 112450395 missense variant C/A;G;T snv 0.010 1.000 1 2007 2007
dbSNP: rs121918464
rs121918464
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2007 2007
dbSNP: rs1239105602
rs1239105602
2 1.000 0.160 10 87864168 5 prime UTR variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs397507514
rs397507514
10 0.790 0.240 12 112450408 missense variant G/C;T snv 0.010 1.000 1 2007 2007
dbSNP: rs562015640
rs562015640
16 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs757333753
rs757333753
6 0.851 0.200 3 12618681 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs770692189
rs770692189
2 1.000 0.120 2 111123957 missense variant G/A;T snv 1.6E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs779530981
rs779530981
4 1.000 0.160 10 87933035 missense variant C/A snv 0.010 1.000 1 2007 2007
dbSNP: rs917927904
rs917927904
2 1.000 0.160 10 87864242 5 prime UTR variant G/T snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2009 2014
dbSNP: rs1057519802
rs1057519802
2 5 150061765 missense variant A/C snv 0.700 1.000 1 2009 2009