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: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C4082304
Disease: Oligodontia
Oligodontia 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0014877
Disease: Esotropia
Esotropia 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0003635
Disease: Apraxias
Apraxias 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0034194
Disease: Pyloric Stenosis
Pyloric Stenosis 		Digestive System Diseases 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0565599
Disease: Maternal hypertension
Maternal hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0020505
Disease: Hyperphagia
Hyperphagia 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0016202
Disease: Flatfoot
Flatfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0004106
Disease: Astigmatism
Astigmatism 		Eye Diseases 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0