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: rs199925463
rs199925463 		1.000 15 40729620 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C3281089
Disease: MIRROR MOVEMENTS 2
MIRROR MOVEMENTS 2 		0.700 1.000 1 2011 2011
dbSNP: rs2928140
rs2928140 		0.925 0.080 15 40698155 intron variant G/C;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs34091239
rs34091239 		1.000 15 40729928 frameshift variant A/-;AA delins
CUI: C3281089
Disease: MIRROR MOVEMENTS 2
MIRROR MOVEMENTS 2 		0.700 1.000 1 2011 2011
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: 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: 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: 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: C2673410
Disease: Small midface
Small midface 		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: 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
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: 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: 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: C0345354
Disease: Radial polydactyly
Radial polydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
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: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs4417527
rs4417527 		0.882 0.120 15 40729082 intron variant C/G snv 0.22
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014