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: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C1384666
Disease: hearing impairment
hearing impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C1837084
Disease: Short metacarpal
Short metacarpal 		0.700 0
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057518799
rs1057518799 		0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 0
dbSNP: rs1057519392
rs1057519392 		1.000 0.160 1 151412348 missense variant A/G snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519392
rs1057519392 		1.000 0.160 1 151412348 missense variant A/G snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1131692270
rs1131692270 		1.000 0.160 1 151412327 missense variant T/C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1131692270
rs1131692270 		1.000 0.160 1 151412327 missense variant T/C snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1135401798
rs1135401798 		1.000 0.160 1 151411741 stop gained C/A snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1276388879
rs1276388879 		1.000 0.040 1 151405647 missense variant A/C;G snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1372713010
rs1372713010 		1.000 0.040 1 151428041 missense variant G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1418634444
rs1418634444 		1.000 0.040 1 151408777 missense variant T/C snv 7.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1452048149
rs1452048149 		1.000 0.040 1 151404828 missense variant C/T snv 4.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1476293577
rs1476293577 		1.000 0.040 1 151428188 missense variant G/A;C snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1484207450
rs1484207450 		1.000 0.040 1 151405155 missense variant A/G snv 7.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 0
dbSNP: rs1553212374
rs1553212374 		1.000 0.160 1 151405828 frameshift variant TA/- delins
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1553212868
rs1553212868 		0.807 0.280 1 151406264 frameshift variant G/- delins
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0