Source: BEFREE

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: rs1042522
rs1042522
TP53
0.426 0.800 17 7676154 missense variant G/C;T snv 0.67
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.030 0.667 3 2012 2015
dbSNP: rs1800975
rs1800975
XPA
0.701 0.360 9 97697296 5 prime UTR variant T/C;G snv 0.63; 4.5E-06; 4.5E-06
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 < 0.001 1 2017 2017
dbSNP: rs2228570
rs2228570
VDR
0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2013 2013
dbSNP: rs4898
rs4898
SYN1 ; TIMP1 ; MIR4769
0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2016 2016
dbSNP: rs1695
rs1695
GSTP1
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.020 1.000 2 2008 2009
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: rs1799793
rs1799793
ERCC2
0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2017 2017
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: rs3745274
rs3745274
CYP2B6
0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2011 2011
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: rs2228526
rs2228526
ERCC6
0.752 0.200 10 49470671 missense variant T/C snv 0.22 0.19
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs2228529
rs2228529
ERCC6
0.925 0.080 10 49459059 missense variant T/C snv 0.22 0.19
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
dbSNP: rs1805388
rs1805388
LIG4
0.790 0.120 13 108211243 missense variant G/A snv 0.18 0.16
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2016 2016
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.040 1.000 4 2003 2015
dbSNP: rs2308327
rs2308327
MGMT
0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2014 2014
dbSNP: rs2308321
rs2308321
MGMT
0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2014 2014
dbSNP: rs25489
rs25489
XRCC1
0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2016 2016
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: rs1800067
rs1800067
ERCC4
0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 < 0.001 1 2017 2017
dbSNP: rs4135113
rs4135113
TDG
0.925 0.080 12 103982915 missense variant G/A;C;T snv 4.7E-02
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2019 2019
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.050 1.000 5 2003 2015
dbSNP: rs3746609
rs3746609
ASXL1
20 32434666 missense variant G/A snv 1.9E-02; 4.4E-06 7.4E-03
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2019 2019