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: 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: 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: 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: rs121917739
rs121917739 		0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.710 1.000 8 2000 2015
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: 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: 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: rs1247974770
rs1247974770 		15 40718820 missense variant G/T snv 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1247974770
rs1247974770 		15 40718820 missense variant G/T snv 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1555429623
rs1555429623 		1.000 15 40729609 missense variant G/A snv
CUI: C3281089
Disease: MIRROR MOVEMENTS 2
MIRROR MOVEMENTS 2 		0.700 0
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: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
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: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		0.700 0
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: 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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		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: 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: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		Female Urogenital Diseases and Pregnancy Complications 0.700 0