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: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		Stomatognathic Diseases 0.700 0
dbSNP: rs1057518913
rs1057518913 		0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C0431447
Disease: Synophrys
Synophrys 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0158288
Disease: Spinal stenosis of lumbar region
Spinal stenosis of lumbar region 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C2673410
Disease: Small midface
Small midface 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0575802
Disease: Small hand
Small hand 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886041093
rs886041093 		0.827 0.280 9 137815998 missense variant G/A snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0039239
Disease: Sinus Tachycardia
Sinus Tachycardia 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs886041093
rs886041093 		0.827 0.280 9 137815998 missense variant G/A snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1861324
Disease: Short philtrum
Short philtrum 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1843108
Disease: Short palm
Short palm 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1857479
Disease: Short columella
Short columella 		0.700 0
dbSNP: rs1057518913
rs1057518913 		0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs879255531
rs879255531 		0.882 0.400 9 137728379 stop gained C/T snv
CUI: C0241442
Disease: Protrusion of tongue
Protrusion of tongue 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C4021300
Disease: Prominent palatine ridges
Prominent palatine ridges 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1835807
Disease: Prominent fingertip pads
Prominent fingertip pads 		0.700 0
dbSNP: rs1057518913
rs1057518913 		0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057518849
rs1057518849 		0.925 0.080 9 137800985 splice donor variant G/A;C snv 4.0E-06
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0