BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
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: rs786203319
rs786203319 		0.827 0.160 17 43115759 missense variant G/A snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 0.500 2 2007 2010
dbSNP: rs80357750
rs80357750 		0.790 0.200 17 43115759 frameshift variant G/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 0.500 2 2007 2010
dbSNP: rs80357796
rs80357796 		0.752 0.240 17 43094464 frameshift variant T/- del
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 1999 2009
dbSNP: rs886039920
rs886039920 		0.807 0.160 17 43115755 frameshift variant ACAGG/- delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 0.500 2 2007 2010
dbSNP: rs11655505
rs11655505 		0.776 0.160 17 43126360 intron variant G/A snv 0.31
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2013 2013
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: rs567534295
rs567534295 		0.882 0.120 17 43048090 intron variant C/T snv 2.8E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs80356897
rs80356897 		0.827 0.160 17 43099853 missense variant A/G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs80356952
rs80356952 		0.790 0.200 17 43093901 stop gained G/A snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs80357106
rs80357106 		0.827 0.200 17 43092212 stop gained C/A snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs80357115
rs80357115 		0.790 0.200 17 43092597 stop gained A/C;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
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: rs80357327
rs80357327 		0.827 0.200 17 43115730 missense variant A/C;G;T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs80357517
rs80357517 		0.827 0.200 17 43092277 frameshift variant -/T delins
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
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: rs876660702
rs876660702 		0.851 0.160 17 43063333 splice region variant C/T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 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