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: rs6539952
rs6539952 		16 86545617 intron variant C/A snv 0.40
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs7197427
rs7197427 		16 86557285 non coding transcript exon variant A/T snv 0.58
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1272951905
rs1272951905 		0.925 0.160 16 86532210 missense variant C/T snv 2.1E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1272951905
rs1272951905 		0.925 0.160 16 86532210 missense variant C/T snv 2.1E-05
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs1272951905
rs1272951905 		0.925 0.160 16 86532210 missense variant C/T snv 2.1E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4633732
rs4633732 		1.000 0.040 16 86557806 upstream gene variant T/G snv 0.26
CUI: C0042345
Disease: Varicosity
Varicosity 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7189489
rs7189489 		1.000 0.040 16 86553056 intron variant A/C snv 0.71
CUI: C0042345
Disease: Varicosity
Varicosity 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs765817887
rs765817887 		1.000 0.080 16 86532214 missense variant C/T 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 2016 2016