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: rs116417701
rs116417701 		5 172875685 intron variant C/T snv 8.1E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1554112524
rs1554112524 		1.000 0.080 5 172914756 missense variant T/A snv
CUI: C1859721
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder)
ARTHROGRYPOSIS MULTIPLEX CONGENITA, NEUROGENIC TYPE (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2339745
rs2339745 		1.000 0.080 5 172933031 non coding transcript exon variant G/A;C;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs564349
rs564349 		5 172897975 3 prime UTR variant G/A snv 0.73
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs538622
rs538622 		0.925 0.120 5 172920676 intron variant A/G snv 0.40
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs538622
rs538622 		0.925 0.120 5 172920676 intron variant A/G snv 0.40
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018