BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
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: rs28897672
rs28897672
0.732 0.280 17 43106487 missense variant A/C;G;T snv 3.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.730 1.000 3 2006 2010
dbSNP: rs41293459
rs41293459
0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.710 1.000 1 2012 2012
dbSNP: rs1555578360
rs1555578360
1.000 0.120 17 43063353 frameshift variant -/T 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: rs1555587401
rs1555587401
1.000 0.120 17 43091910 frameshift variant C/- del
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: rs1555588460
rs1555588460
1.000 0.120 17 43092472 frameshift variant G/- 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: rs62625308
rs62625308
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05
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: rs80357234
rs80357234
0.882 0.200 17 43104949 stop gained G/A;T snv
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: rs80357522
rs80357522
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
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: rs80357579
rs80357579
0.882 0.200 17 43091760 frameshift variant CT/- delins 1.4E-05
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: rs80357912
rs80357912
0.882 0.200 17 43092914 frameshift variant A/-;AA 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: rs80358010
rs80358010
0.882 0.200 17 43124016 splice donor variant C/A;G;T snv
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: rs1060502333
rs1060502333
0.882 0.200 17 43093322 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: rs1567788936
rs1567788936
1.000 0.120 17 43091438 missense variant A/C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1567790190
rs1567790190
1.000 0.120 17 43091762 frameshift variant GTGTTCTTAGACAGACACT/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1567792938
rs1567792938
1.000 0.120 17 43092435 frameshift variant T/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1567797661
rs1567797661
1.000 0.120 17 43093592 frameshift variant TAGAACAACTATCAATTTGC/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1567797787
rs1567797787
1.000 0.120 17 43093628 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: rs1567798003
rs1567798003
1.000 0.120 17 43093676 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: rs1567800087
rs1567800087
1.000 0.120 17 43094229 frameshift variant -/TGGCCAGTAAGTCTATTTTCTCTGAAGAACC delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1567801576
rs1567801576
1.000 0.120 17 43094624 frameshift variant C/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs273901746
rs273901746
0.882 0.200 17 43063375 splice acceptor variant T/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs397507215
rs397507215
0.925 0.120 17 43092179 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: rs397509071
rs397509071
1.000 0.120 17 43104217 stop gained C/A;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs397509236
rs397509236
0.925 0.120 17 43063332 splice donor variant C/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs41293465
rs41293465
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0