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: rs1555599288
rs1555599288 		1.000 17 58709991 splice donor variant G/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555602141
rs1555602141 		0.925 0.200 17 58720795 frameshift variant TTGTTCCTGC/- 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 0
dbSNP: rs1555602159
rs1555602159 		17 58720813 splice donor variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1555603011
rs1555603011 		1.000 17 58724043 frameshift variant A/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1555603056
rs1555603056 		1.000 17 58724097 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: rs1567782755
rs1567782755 		1.000 17 58692674 stop gained C/T snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1567782936
rs1567782936 		1.000 17 58692716 frameshift variant G/TTC delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1567785872
rs1567785872 		0.925 0.120 17 58694984 stop gained G/T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs1567785872
rs1567785872 		0.925 0.120 17 58694984 stop gained G/T snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1567786326
rs1567786326 		17 58695099 stop gained C/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1567786509
rs1567786509 		1.000 17 58695148 frameshift variant AGAAATTTG/C delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1567799818
rs1567799818 		1.000 17 58709955 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1567799818
rs1567799818 		1.000 17 58709955 stop gained C/T snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1567799943
rs1567799943 		0.925 0.200 17 58709992 splice donor variant T/C snv
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 0
dbSNP: rs1567799943
rs1567799943 		0.925 0.200 17 58709992 splice donor variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1567799943
rs1567799943 		0.925 0.200 17 58709992 splice donor variant T/C snv
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1567817415
rs1567817415 		0.925 0.200 17 58732517 frameshift variant G/- 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 0
dbSNP: rs1567817415
rs1567817415 		0.925 0.200 17 58732517 frameshift variant G/- delins
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs1567817516
rs1567817516 		1.000 0.120 17 58732545 splice donor variant G/C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs201529791
rs201529791 		0.925 0.200 17 58703280 missense variant T/C snv 8.0E-06 7.0E-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 0
dbSNP: rs201529791
rs201529791 		0.925 0.200 17 58703280 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
FANCONI ANEMIA, COMPLEMENTATION GROUP O 		0.700 0
dbSNP: rs587780259
rs587780259 		0.882 0.120 17 58709857 splice acceptor variant A/C;G snv 2.0E-05 2.1E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs587781287
rs587781287 		0.925 17 58724090 stop gained C/A;T snv 8.0E-06 7.0E-06
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 		0.700 0
dbSNP: rs587781490
rs587781490 		0.925 0.120 17 58696790 stop gained A/G;T snv 4.0E-06; 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs587781490
rs587781490 		0.925 0.120 17 58696790 stop gained A/G;T snv 4.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0