RAD51B, RAD51 paralog B, 5890

N. diseases: 126; N. variants: 108
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: rs2842339
rs2842339 		0.851 0.040 14 68520282 intron variant G/A snv 0.90
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2842339
rs2842339 		0.851 0.040 14 68520282 intron variant G/A snv 0.90
CUI: C2237660
Disease: exudative macular degeneration
exudative macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2842339
rs2842339 		0.851 0.040 14 68520282 intron variant G/A snv 0.90
CUI: C1536085
Disease: Geographic Atrophy
Geographic Atrophy 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2842339
rs2842339 		0.851 0.040 14 68520282 intron variant G/A snv 0.90
CUI: C0271084
Disease: Exudative age-related macular degeneration
Exudative age-related macular degeneration 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1952246
rs1952246 		1.000 0.080 14 68165095 intron variant G/A snv 0.89
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1958115
rs1958115 		1.000 0.080 14 68170948 intron variant C/A snv 0.89
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2588814
rs2588814 		1.000 0.080 14 68177081 intron variant G/A snv 0.87
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2038979
rs2038979 		1.000 0.080 14 68183059 intron variant G/A snv 0.87
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2588819
rs2588819 		1.000 0.080 14 68161963 intron variant T/C snv 0.87
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2588808
rs2588808 		1.000 0.080 14 68193464 intron variant A/G snv 0.84
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1570106
rs1570106 		14 68346398 intron variant T/C snv 0.84
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2010 2010
dbSNP: rs1570106
rs1570106 		14 68346398 intron variant T/C snv 0.84
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs2243905
rs2243905 		1.000 0.080 14 68166696 intron variant G/A snv 0.83
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2588809
rs2588809 		0.807 0.160 14 68193711 intron variant T/C snv 0.80
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.820 1.000 6 2012 2017
dbSNP: rs2588809
rs2588809 		0.807 0.160 14 68193711 intron variant T/C snv 0.80
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 3 2013 2016
dbSNP: rs2588809
rs2588809 		0.807 0.160 14 68193711 intron variant T/C snv 0.80
CUI: C0007104
Disease: Female Breast Carcinoma
Female Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2588809
rs2588809 		0.807 0.160 14 68193711 intron variant T/C snv 0.80
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2588809
rs2588809 		0.807 0.160 14 68193711 intron variant T/C snv 0.80
CUI: C0235653
Disease: Malignant neoplasm of female breast
Malignant neoplasm of female breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2588809
rs2588809 		0.807 0.160 14 68193711 intron variant T/C snv 0.80
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs927220
rs927220 		1.000 0.120 14 68301255 intron variant G/T snv 0.69
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2208397
rs2208397 		1.000 0.080 14 68286570 intron variant T/G snv 0.68
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4902566
rs4902566 		1.000 0.040 14 68326837 intron variant T/C snv 0.68
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs963918
rs963918 		0.827 0.120 14 68595397 3 prime UTR variant C/T snv 0.64
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs963918
rs963918 		0.827 0.120 14 68595397 3 prime UTR variant C/T snv 0.64
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs963918
rs963918 		0.827 0.120 14 68595397 3 prime UTR variant C/T snv 0.64
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016