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: rs608995
rs608995
PGR
0.882 0.120 11 101035002 3 prime UTR variant A/T snv 0.27
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2005 2005
dbSNP: rs1456079929
rs1456079929
PGR
0.851 0.120 11 101042001 missense variant C/A snv 8.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2001 2001
dbSNP: rs1042838
rs1042838
PGR
0.742 0.240 11 101062681 missense variant C/A;G snv 0.13; 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.030 1.000 3 2001 2015
dbSNP: rs750042441
rs750042441
PGR ; PGR-AS1
0.827 0.160 11 101128367 missense variant G/A;C snv 6.1E-05; 4.3E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2015 2015
dbSNP: rs2228611
rs2228611
DNMT1
0.708 0.520 19 10156401 synonymous variant T/A;C snv 0.52
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2013 2013
dbSNP: rs759920
rs759920
DNMT1
0.882 0.120 19 10174102 intron variant A/G;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2013 2013
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2015 2015
dbSNP: rs230521
rs230521
NFKB1
0.851 0.160 4 102542171 intron variant C/G snv 0.59
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2015 2015
dbSNP: rs4648068
rs4648068
NFKB1
0.790 0.240 4 102597148 intron variant A/G snv 0.31
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2015 2015
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
0.592 0.760 11 102799765 intron variant C/- delins 0.50
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2015 2015
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2016 2016
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.030 0.667 3 2014 2016
dbSNP: rs200182588
rs200182588
SMC2 ; SMC2-AS1
0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2016 2016
dbSNP: rs4925
rs4925
GSTO1
0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2010 2010
dbSNP: rs2297235
rs2297235
GSTO2
0.752 0.320 10 104274733 5 prime UTR variant A/G snv 0.22
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2010 2010
dbSNP: rs156697
rs156697
GSTO2
0.672 0.560 10 104279427 missense variant A/G;T snv 0.35
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2010 2010
dbSNP: rs121434592
rs121434592
AKT1
0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.030 1.000 3 2007 2008
dbSNP: rs873330
rs873330
LOC107984606
0.882 0.120 13 104807897 intergenic variant A/G snv 0.31
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2012 2012
dbSNP: rs1801516
rs1801516
ATM
0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2015 2015
dbSNP: rs638820
rs638820
GSTM2 ; GSTM4
0.827 0.160 1 109667284 intron variant G/A snv 0.52
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2010 2010
dbSNP: rs186724
rs186724
AHCYL1
0.882 0.120 1 110018293 intron variant C/G;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2018 2018
dbSNP: rs671
rs671
ALDH2
0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2018 2018
dbSNP: rs11954856
rs11954856
APC
0.732 0.200 5 112751630 intron variant T/G snv 0.54
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2014 2014
dbSNP: rs17561
rs17561
IL1A
0.672 0.560 2 112779646 missense variant C/A snv 0.27 0.26
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2014 2014
dbSNP: rs351771
rs351771
APC
0.882 0.120 5 112828864 synonymous variant G/A snv 0.65 0.59
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 1.000 1 2014 2014