BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Malignant neoplasm of ovary ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28897701
rs28897701 		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 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs41293521
rs41293521 		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 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs4987046
rs4987046 		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 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs56070345
rs56070345 		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 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs587781803
rs587781803 		0.851 0.200 13 32341169 frameshift variant AAGAG/- delins
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80358479
rs80358479 		1.000 0.120 13 32333367 missense variant C/T snv 2.1E-04 1.2E-04
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80358981
rs80358981 		0.827 0.200 13 32356550 stop gained C/T snv 2.0E-05 1.4E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80359078
rs80359078 		0.882 0.160 13 32370430 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80359176
rs80359176 		1.000 0.120 13 32380076 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80359477
rs80359477 		0.851 0.200 13 32339386 frameshift variant AA/-;A delins
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs144848
rs144848 		0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.040 1.000 4 2003 2015
dbSNP: rs11571833
rs11571833 		0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2016 2018
dbSNP: rs55854959
rs55854959 		0.882 0.120 13 32330979 missense variant G/A snv 2.4E-05 1.4E-04
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs80358721
rs80358721 		0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs876658943
rs876658943 		0.882 0.120 13 32332593 missense variant A/G snv 4.0E-06
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015