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: rs778767225
rs778767225
MOK
4 0.851 0.200 14 102231805 missense variant C/A snv 2.4E-05 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1200469268
rs1200469268
ABCA1
2 0.925 0.080 9 104830968 missense variant C/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3733609
rs3733609
TET2 ; TET2-AS1
2 1.000 0.080 4 105269705 missense variant T/A;C snv 6.4E-06; 3.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs397507510
rs397507510
PTPN11
8 0.776 0.280 12 112450361 missense variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121918462
rs121918462
PTPN11
13 0.742 0.320 12 112450398 missense variant C/T snv 0.040 0.750 4 2005 2015
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.040 1.000 4 2011 2017
dbSNP: rs1441084781
rs1441084781
TLR4
1 1.000 0.080 9 117712543 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.080 1.000 8 2014 2019
dbSNP: rs562533120
rs562533120
HBS1L
3 0.882 0.080 6 134966397 missense variant A/C snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs9376092
rs9376092
LOC105378010
10 0.851 0.120 6 135106006 upstream gene variant C/A snv 0.24 0.020 1.000 2 2017 2018
dbSNP: rs2201862
rs2201862 		3 0.925 0.080 3 168930251 downstream gene variant T/C snv 0.63 0.020 1.000 2 2017 2018
dbSNP: rs556915505
rs556915505
MECOM
5 0.851 0.080 3 169143780 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121913504
rs121913504
JAK3
3 0.882 0.080 19 17837200 missense variant G/A snv 0.700 1.000 4 2010 2014
dbSNP: rs1259653415
rs1259653415
TFRC
3 1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs4858647
rs4858647 		2 0.925 0.080 3 24749884 intron variant C/A;G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs104894365
rs104894365
KRAS
9 0.827 0.320 12 25245345 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.010 1.000 1 2015 2015
dbSNP: rs796065343
rs796065343
CSF3R
12 0.776 0.080 1 36467833 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs529311209
rs529311209
SGSM3
2 0.925 0.120 22 40409754 missense variant G/A;C;T snv 3.3E-05; 8.2E-06 0.010 1.000 1 2012 2012
dbSNP: rs17292650
rs17292650
MPL
3 0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02 0.010 1.000 1 2004 2004
dbSNP: rs1057519752
rs1057519752
MPL
1 1.000 0.080 1 43349307 missense variant A/C;G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs121913614
rs121913614
MPL
7 0.790 0.120 1 43349308 missense variant G/A snv 0.710 1.000 4 2008 2013