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: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C4021988
Disease: Abnormality of the lumbar spine
Abnormality of the lumbar spine 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C4025888
Disease: Abnormality of the menstrual cycle
Abnormality of the menstrual cycle 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C4021789
Disease: Abnormality of the vertebral column
Abnormality of the vertebral column 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0545053
Disease: Advanced bone age
Advanced bone age 		0.700 0
dbSNP: rs1361231265
rs1361231265 		1.000 0.080 9 137716815 missense variant C/G snv 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1057518913
rs1057518913 		0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0748473
Disease: Arthritis, Sacroiliac
Arthritis, Sacroiliac 		Musculoskeletal Diseases 0.700 0
dbSNP: rs886037776
rs886037776 		0.925 0.280 9 137817477 stop gained G/A snv
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs35528310
rs35528310 		9 137753559 intron variant G/A;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0426891
Disease: Broad thumbs
Broad thumbs 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0006325
Disease: Bruxism
Bruxism 		Stomatognathic Diseases 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		Stomatognathic Diseases 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 0
dbSNP: rs1057518913
rs1057518913 		0.851 0.320 9 137762822 splice donor variant T/C snv
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		0.700 0
dbSNP: rs1554888939
rs1554888939 		0.683 0.640 9 137798823 missense variant G/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs879255531
rs879255531 		0.882 0.400 9 137728379 stop gained C/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs886041093
rs886041093 		0.827 0.280 9 137815998 missense variant G/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0