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: rs587781410
rs587781410 		0.925 17 58732548 inframe deletion GTA/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 7 2003 2017
dbSNP: rs587781410
rs587781410 		0.925 17 58732548 inframe deletion GTA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 6 2012 2017
dbSNP: rs587781410
rs587781410 		0.925 17 58732548 inframe deletion GTA/- delins
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 		0.700 1.000 5 2003 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: rs587780835
rs587780835 		1.000 17 58734116 splice acceptor variant A/G snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 4 2010 2015
dbSNP: rs730881939
rs730881939 		0.851 0.200 17 58695008 stop gained -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 4 2010 2016
dbSNP: rs730881939
rs730881939 		0.851 0.200 17 58695008 stop gained -/A delins
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 4 2010 2016
dbSNP: rs730881939
rs730881939 		0.851 0.200 17 58695008 stop gained -/A delins
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: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 4 2010 2016
dbSNP: rs876658644
rs876658644 		1.000 17 58703330 splice donor variant G/A snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 4 2010 2016
dbSNP: rs1555599288
rs1555599288 		1.000 17 58709991 splice donor variant G/- del
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs1567789009
rs1567789009 		1.000 17 58696861 splice donor variant T/A snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs267606998
rs267606998 		1.000 17 58695159 missense variant G/T snv
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 		0.800 1.000 3 2010 2014
dbSNP: rs587782036
rs587782036 		0.925 17 58696692 splice acceptor variant G/A;C snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs730881933
rs730881933 		1.000 17 58724101 splice donor variant G/A snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs730881939
rs730881939 		0.851 0.200 17 58695008 stop gained -/A delins
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 		0.700 1.000 3 2010 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: 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: rs878855177
rs878855177 		1.000 17 58692790 splice donor variant TAACGA/CTAAG delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
dbSNP: rs1060502601
rs1060502601 		0.882 0.200 17 58709884 frameshift variant T/- delins
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2015 2016
dbSNP: rs1060502601
rs1060502601 		0.882 0.200 17 58709884 frameshift variant T/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 2 2015 2016
dbSNP: rs1555605074
rs1555605074 		1.000 17 58732512 stop gained C/T snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 2 2003 2017
dbSNP: rs1555605103
rs1555605103 		17 58732536 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2011 2013
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