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: rs1135401778
rs1135401778 		0.752 0.400 17 67854315 frameshift variant T/- del
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
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: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size 		0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation 		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: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
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: 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: rs1555649483
rs1555649483 		0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs1568070621
rs1568070621 		1.000 0.040 17 67918746 frameshift variant AG/- delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
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: rs60432162
rs60432162 		17 67884422 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs2080090
rs2080090 		17 67832255 intron variant T/A snv 0.20
CUI: C0518026
Disease: body fat percentage (physical finding)
body fat percentage (physical finding) 		0.700 1.000 1 2019 2019
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: rs4790941
rs4790941 		17 67981016 intron variant G/A snv 0.23
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
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: 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: rs4790981
rs4790981 		17 67925718 intron variant A/G snv 0.33
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs7218014
rs7218014 		17 67835900 intron variant T/C snv 0.33
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 1.000 1 2017 2017
dbSNP: rs1555649483
rs1555649483 		0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 1.000 1 2017 2017
dbSNP: rs1555652383
rs1555652383 		0.807 0.160 17 67912720 frameshift variant TG/- delins
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 1.000 1 2017 2017
dbSNP: rs782736894
rs782736894 		0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06
CUI: C1867131
Disease: Broad hallux
Broad hallux 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1837733
Disease: Broad lateral eyebrow
Broad lateral eyebrow 		0.700 1.000 1 2017 2017
dbSNP: rs1555652383
rs1555652383 		0.807 0.160 17 67912720 frameshift variant TG/- delins
CUI: C1837733
Disease: Broad lateral eyebrow
Broad lateral eyebrow 		0.700 1.000 1 2017 2017
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.700 1.000 1 2017 2017
dbSNP: rs1555639076
rs1555639076 		0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.700 1.000 1 2017 2017