BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: ovarian neoplasm ×
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: rs869320800
rs869320800 		0.925 0.120 13 32379846 frameshift variant GTAAA/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs1555283322
rs1555283322 		0.882 0.200 13 32337987 frameshift variant A/-;AA delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1566215870
rs1566215870 		1.000 0.120 13 32319208 frameshift variant GAAACCATCTTATAATCAG/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1566221377
rs1566221377 		1.000 0.120 13 32330960 stop gained GA/CT mnv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1566228017
rs1566228017 		1.000 0.120 13 32337557 frameshift variant GTATCTGCACATTTACAGAGTAGTGTAGTTGTTTCTGATTGTAA/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1566231316
rs1566231316 		1.000 0.120 13 32339248 frameshift variant GTATCTTTTTGAAAGTTAAAGTACATGAAAATGTAGAAAAAGAA/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1566232230
rs1566232230 		1.000 0.120 13 32339693 frameshift variant G/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1566233171
rs1566233171 		1.000 0.120 13 32340115 frameshift variant TTGCTGACATT/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1566244975
rs1566244975 		1.000 0.120 13 32362681 frameshift variant A/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1566260318
rs1566260318 		1.000 0.120 13 32397046 splice donor variant T/C;G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs397507591
rs397507591 		0.882 0.200 13 32332975 frameshift variant G/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs397507608
rs397507608 		0.925 0.120 13 32333282 frameshift variant G/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs587781506
rs587781506 		0.882 0.200 13 32362594 stop gained G/A snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs786203853
rs786203853 		0.925 0.120 13 32339850 frameshift variant -/T delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80358920
rs80358920 		0.732 0.400 13 32346841 stop gained C/G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80359380
rs80359380 		0.851 0.200 13 32337618 frameshift variant -/T;TT delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80359405
rs80359405 		0.851 0.200 13 32338201 frameshift variant GT/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80359439
rs80359439 		0.882 0.200 13 32338634 frameshift variant T/-;TT delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80359448
rs80359448 		0.882 0.200 13 32338804 frameshift variant A/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80359507
rs80359507 		0.882 0.200 13 32339700 frameshift variant AAA/-;A;AA;AAAA;AAAAA delins 2.8E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80359550
rs80359550 		0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80359567
rs80359567 		0.882 0.200 13 32340570 frameshift variant C/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80359596
rs80359596 		0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs80359752
rs80359752 		0.882 0.200 13 32380136 frameshift variant A/-;AA delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs81002836
rs81002836 		0.851 0.200 13 32362521 splice acceptor variant A/G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0