RAD51, RAD51 recombinase, 5888

N. diseases: 363; N. variants: 16
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: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 0
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs11855560
rs11855560 		15 40732105 3 prime UTR variant T/C snv 0.49
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C1862102
Disease: BRACHYDACTYLY, TYPE E1
BRACHYDACTYLY, TYPE E1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs121917739
rs121917739 		0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C4016360
Disease: BREAST CANCER, SUSCEPTIBILITY TO, IN BRCA1 AND BRCA2 CARRIERS
BREAST CANCER, SUSCEPTIBILITY TO, IN BRCA1 AND BRCA2 CARRIERS 		0.700 0
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2007 2011
dbSNP: rs121917739
rs121917739 		0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1801321
rs1801321 		0.790 0.160 15 40695367 5 prime UTR variant G/C;T snv 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2412546
rs2412546 		0.925 0.080 15 40714325 intron variant G/A snv 0.49
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4417527
rs4417527 		0.882 0.120 15 40729082 intron variant C/G snv 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121917739
rs121917739 		0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0009806
Disease: Constipation
Constipation 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C1855222
Disease: Delayed proximal femoral epiphyseal ossification
Delayed proximal femoral epiphyseal ossification 		0.700 0
dbSNP: rs1057519413
rs1057519413 		0.925 0.120 15 40729955 missense variant G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 3 2014 2015
dbSNP: rs1801320
rs1801320 		0.742 0.160 15 40695330 5 prime UTR variant G/C snv 0.12
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs1801321
rs1801321 		0.790 0.160 15 40695367 5 prime UTR variant G/C;T snv 0.35
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs1057519413
rs1057519413 		0.925 0.120 15 40729955 missense variant G/A snv
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C4284093
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP R
FANCONI ANEMIA, COMPLEMENTATION GROUP R 		0.700 0