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: rs7216064
rs7216064
1.000 0.040 17 67902693 intron variant G/A snv 0.22
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
Neoplasms 0.810 1.000 4 2012 2019
dbSNP: rs753044214
rs753044214
1.000 17 67903835 frameshift variant A/-;AA delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 19 1995 2017
dbSNP: rs753044214
rs753044214
1.000 17 67903835 frameshift variant A/-;AA delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 19 1995 2017
dbSNP: rs12602912
rs12602912
1.000 0.040 17 67873957 intron variant C/G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 2 2017 2018
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0454641
Disease: Expressive language delay
Expressive language delay
0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0431663
Disease: Bilateral Cryptorchidism
Bilateral Cryptorchidism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
Abnormal aggressive, impulsive or violent behavior
Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0344541
Disease: Persistent pupillary membranes
Persistent pupillary membranes
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C1839798
Disease: Long nose
Long nose
0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size
0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0086543
Disease: Cataract
Cataract
Eye Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
Abnormality of the periventricular white matter
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0025990
Disease: Micrognathism
Micrognathism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0041834
Disease: Erythema
Erythema
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C4024956
Disease: Grammar-specific speech disorder
Grammar-specific speech disorder
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C0004134
Disease: Ataxia
Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1135401778
rs1135401778
0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C1840069
Disease: Sandal gap
Sandal gap
0.700 1.000 1 2017 2017
dbSNP: rs12449442
rs12449442
17 67951524 non coding transcript exon variant G/A snv 0.22
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs12449442
rs12449442
17 67951524 non coding transcript exon variant G/A snv 0.22
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019
dbSNP: rs12449442
rs12449442
17 67951524 non coding transcript exon variant G/A snv 0.22
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019