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: 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: 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
dbSNP: rs12602912
rs12602912 		1.000 0.040 17 67873957 intron variant C/G;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 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: 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: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		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: C1851883
Disease: Small, conical teeth
Small, conical teeth 		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: C4022873
Disease: Small pituitary gland
Small pituitary gland 		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: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		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: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		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: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		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: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 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: rs1425998598
rs1425998598 		0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 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: C4024855
Disease: Lack of subcutaneous fatty tissue
Lack of subcutaneous fatty tissue 		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: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 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: 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: C0920299
Disease: Overriding toe
Overriding toe 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 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: C0454641
Disease: Expressive language delay
Expressive language delay 		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: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2017 2017