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: 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
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0454642
Disease: Receptive language delay
Receptive language delay 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1563183492
rs1563183492 		0.708 0.520 7 70766248 missense variant C/T snv
CUI: C0016873
Disease: Fused Teeth
Fused Teeth 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs767529359
rs767529359 		1.000 7 70764832 missense variant C/A;T snv 2.1E-04
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs864321694
rs864321694 		1.000 7 70762983 frameshift variant AA/- delins
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs869312878
rs869312878 		0.882 0.160 7 70766130 frameshift variant -/C delins
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs869312878
rs869312878 		0.882 0.160 7 70766130 frameshift variant -/C delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs869312878
rs869312878 		0.882 0.160 7 70766130 frameshift variant -/C delins
CUI: C4014435
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 		0.700 0
dbSNP: rs734930
rs734930 		0.925 0.040 7 70555174 intron variant T/C snv 0.53
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs734930
rs734930 		0.925 0.040 7 70555174 intron variant T/C snv 0.53
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs734930
rs734930 		0.925 0.040 7 70555174 intron variant T/C snv 0.53
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs6943555
rs6943555 		0.882 0.080 7 70341037 intron variant T/A snv 0.34
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.800 1.000 1 2011 2011
dbSNP: rs11766624
rs11766624 		7 70422099 intron variant A/G snv 0.18
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs11766624
rs11766624 		7 70422099 intron variant A/G snv 0.18
CUI: C2734068
Disease: Arm span
Arm span 		0.700 1.000 1 2012 2012
dbSNP: rs6943555
rs6943555 		0.882 0.080 7 70341037 intron variant T/A snv 0.34
CUI: C0852733
Disease: Completed Suicide
Completed Suicide 		0.010 1.000 1 2013 2013
dbSNP: rs6943555
rs6943555 		0.882 0.080 7 70341037 intron variant T/A snv 0.34
CUI: C0019337
Disease: Heroin Dependence
Heroin Dependence 		Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2013 2014