RAD51C, RAD51 paralog C, 5889

N. diseases: 162; N. variants: 96
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: rs767796996
rs767796996 		0.827 0.200 17 58695189 stop gained G/A;C snv 4.1E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 2 2012 2017
dbSNP: rs767796996
rs767796996 		0.827 0.200 17 58695189 stop gained G/A;C snv 4.1E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs767796996
rs767796996 		0.827 0.200 17 58695189 stop gained G/A;C snv 4.1E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs767796996
rs767796996 		0.827 0.200 17 58695189 stop gained G/A;C snv 4.1E-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 2017 2017
dbSNP: rs760235677
rs760235677 		0.925 17 58709991 splice donor variant G/A;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs760235677
rs760235677 		0.925 17 58709991 splice donor variant G/A;T snv 1.2E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs760235677
rs760235677 		0.925 17 58709991 splice donor variant G/A;T snv 1.2E-05
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs759292615
rs759292615 		1.000 17 58732523 stop gained C/A;T snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2002 2017
dbSNP: rs759292615
rs759292615 		1.000 17 58732523 stop gained C/A;T snv 8.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 1 2003 2003
dbSNP: rs757128712
rs757128712 		1.000 17 58692789 splice donor variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs757128712
rs757128712 		1.000 17 58692789 splice donor variant G/A;T snv 4.0E-06; 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 3 2010 2015
dbSNP: rs754367349
rs754367349 		0.925 17 58709927 frameshift variant T/- del
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 		0.700 1.000 3 2011 2015
dbSNP: rs754367349
rs754367349 		0.925 17 58709927 frameshift variant T/- del
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2011 2015
dbSNP: rs754367349
rs754367349 		0.925 17 58709927 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs748589398
rs748589398 		1.000 17 58720744 splice acceptor variant A/G;T snv 4.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs748589398
rs748589398 		1.000 17 58720744 splice acceptor variant A/G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs746993675
rs746993675 		17 58696785 frameshift variant T/- delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2015 2016
dbSNP: rs730881942
rs730881942 		0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2011 2016
dbSNP: rs730881942
rs730881942 		0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2011 2016
dbSNP: rs730881942
rs730881942 		0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2011 2011
dbSNP: rs730881942
rs730881942 		0.882 0.200 17 58692733 frameshift variant G/- delins 2.8E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs730881941
rs730881941 		1.000 17 58724037 splice acceptor variant CAGGG/- del
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 4 2010 2016
dbSNP: rs730881941
rs730881941 		1.000 17 58724037 splice acceptor variant CAGGG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2013 2015
dbSNP: rs730881940
rs730881940 		1.000 17 58695174 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs730881940
rs730881940 		1.000 17 58695174 frameshift variant -/A delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0