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: 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: 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: rs779582317
rs779582317 		1.000 17 58724038 splice acceptor variant A/C;G 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 4 2013 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: rs145310733
rs145310733 		1.000 17 58703194 splice acceptor variant A/G snv 4.0E-06 1.4E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 3 2010 2014
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: rs28363317
rs28363317 		1.000 17 58720767 missense variant A/G snv 5.6E-03 6.4E-03
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 		0.700 1.000 3 2010 2014
dbSNP: rs35151472
rs35151472 		1.000 17 58696773 missense variant G/A snv 4.0E-06
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 		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: 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: 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: 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: 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: rs730881932
rs730881932 		1.000 0.200 17 58724069 missense variant C/T snv 8.0E-06
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 2 2012 2017
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: 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: rs779582317
rs779582317 		1.000 17 58724038 splice acceptor variant A/C;G snv 1.2E-05
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 2 2013 2016
dbSNP: rs1064792966
rs1064792966 		1.000 17 58734147 frameshift variant TCTGCATGTT/- delins 7.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 1 2003 2003
dbSNP: rs1413872299
rs1413872299 		1.000 17 58703195 splice acceptor variant G/C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs1555603056
rs1555603056 		1.000 17 58724097 frameshift variant A/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 1 2003 2003
dbSNP: rs1555605074
rs1555605074 		1.000 17 58732512 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 1 2017 2017
dbSNP: rs1555605532
rs1555605532 		1.000 17 58734130 stop gained A/T snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 1.000 1 2003 2003