Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434595
rs121434595
NRAS
0.708 0.320 1 114716124 missense variant C/A;G;T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 1.000 1 2016 2016
dbSNP: rs121434596
rs121434596
NRAS
0.677 0.440 1 114716123 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 1.000 1 2016 2016
dbSNP: rs121913250
rs121913250
NRAS
0.683 0.440 1 114716127 missense variant C/A;G;T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 1.000 1 2016 2016
dbSNP: rs121913615
rs121913615
MPL
0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2008 2008
dbSNP: rs2072671
rs2072671
CDA
0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2013 2013
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 0
dbSNP: rs559063155
rs559063155
SF3B1
0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.030 1.000 3 2016 2017
dbSNP: rs121913499
rs121913499
IDH1
0.605 0.520 2 208248389 missense variant G/A;C;T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.710 1.000 2 2012 2016
dbSNP: rs121913500
rs121913500
IDH1
0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.710 1.000 2 2016 2018
dbSNP: rs142883642
rs142883642
IDH1
1.000 0.040 2 208248486 missense variant T/C snv 3.6E-05 2.1E-05
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2010 2010
dbSNP: rs147001633
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 1.000 1 2016 2016
dbSNP: rs16944
rs16944
IL1B
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2016 2016
dbSNP: rs377577594
rs377577594
DNMT3A
0.827 0.240 2 25234374 missense variant G/A;C;T snv 1.2E-04; 8.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.700 1.000 1 2016 2016
dbSNP: rs3835
rs3835
XRCC5
0.882 0.120 2 216201914 intron variant G/A snv 0.21
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2015 2015
dbSNP: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2014 2014
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.820 1.000 2 2011 2012
dbSNP: rs751689316
rs751689316
MECOM
0.925 0.080 3 169131510 missense variant C/T snv 1.2E-05
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.020 1.000 2 2008 2013
dbSNP: rs1799977
rs1799977
MLH1
0.662 0.440 3 37012077 missense variant A/C;G;T snv 0.23
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs387907272
rs387907272
MYD88
0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs121913507
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.020 1.000 2 2005 2013
dbSNP: rs121913682
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.020 1.000 2 2005 2013
dbSNP: rs12498609
rs12498609
TET2 ; TET2-AS1
4 105234028 missense variant C/G;T snv 6.3E-02; 4.0E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs2454206
rs2454206
TET2 ; TET2-AS1
0.851 0.160 4 105275794 missense variant A/G;T snv 0.30; 6.4E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs2230641
rs2230641
CCNH
0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2019 2019