Source: UNIPROT

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: rs55770810
rs55770810
BRCA1
0.763 0.280 17 43063931 missense variant G/A;T snv 2.4E-05; 8.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.800 0
dbSNP: rs28897672
rs28897672
BRCA1
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.730 1.000 0 2006 2010
dbSNP: rs121913279
rs121913279
PIK3CA
0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.710 1.000 1 2004 2016
dbSNP: rs28933370
rs28933370
ERBB2 ; MIR4728
0.882 0.120 17 39725125 missense variant A/G snv 7.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 1.000 5 2004 2013
dbSNP: rs121913403
rs121913403
CTNNB1
0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 1.000 3 2008 2013
dbSNP: rs137852691
rs137852691
OPCML
0.925 0.120 11 132657203 missense variant G/A;C snv 8.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 1.000 3 2008 2013
dbSNP: rs113954997
rs113954997
RRAS2
0.882 0.280 11 14294844 missense variant T/A;C snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs1199923024
rs1199923024
BRIP1
1.000 0.120 17 61683945 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs121913286
rs121913286
PIK3CA
0.677 0.280 3 179218306 missense variant C/A;G snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs121913322
rs121913322
STK11
0.882 0.120 19 1221320 missense variant C/A;G;T snv 2.9E-05; 1.2E-04
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs121913340
rs121913340
BRAF
1.000 0.120 7 140753379 missense variant C/T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs121913413
rs121913413
CTNNB1
0.763 0.240 3 41224634 missense variant C/A;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs121964872
rs121964872
CDH1
0.882 0.120 16 68833362 missense variant A/G snv 4.4E-05 1.1E-04
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs1800726
rs1800726
BRCA1
1.000 0.120 17 43070993 missense variant C/G;T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs1800751
rs1800751
BRCA1
0.851 0.160 17 43047676 missense variant G/A;C snv 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs1800757
rs1800757
BRCA1
1.000 0.120 17 43051069 missense variant G/A snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs273900729
rs273900729
BRCA1
0.925 0.160 17 43082529 missense variant A/G snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs28897701
rs28897701
BRCA2
0.925 0.160 13 32319232 missense variant G/C snv 2.6E-04 3.1E-04
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs35394823
rs35394823
DPH1 ; OVCA2
1.000 0.120 17 2040586 missense variant C/G snv 8.1E-02 6.8E-02
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs372000848
rs372000848
MRE11
1.000 0.120 11 94470575 missense variant G/A snv 5.2E-05 7.7E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs41293521
rs41293521
BRCA2
0.925 0.160 13 32394724 missense variant T/C snv 2.9E-04 2.5E-04
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs4987046
rs4987046
BRCA2
0.925 0.160 13 32319134 missense variant A/G snv 1.6E-03 1.6E-03
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs56070345
rs56070345
BRCA2
1.000 0.120 13 32356497 missense variant G/A;C;T snv 6.4E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs778705666
rs778705666
DPH1
1.000 0.120 17 2030174 missense variant C/T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0
dbSNP: rs80187739
rs80187739
BRCA1
0.851 0.200 17 43067608 missense variant C/A;G;T snv 1.2E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.700 0