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: 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
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C1837731
Disease: Overfolded helix
Overfolded helix 		0.700 0
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
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: C1855222
Disease: Delayed proximal femoral epiphyseal ossification
Delayed proximal femoral epiphyseal ossification 		0.700 0
dbSNP: rs1555429629
rs1555429629 		0.763 0.200 15 40729632 missense variant G/A snv
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		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: C0345354
Disease: Radial polydactyly
Radial polydactyly 		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: C0349588
Disease: Short stature
Short stature 		0.700 0
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