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: rs747068278
rs747068278 		1.000 0.120 2 70212730 missense variant C/T snv 3.6E-05 2.1E-05
CUI: C0221054
Disease: Welander Distal Myopathy
Welander Distal Myopathy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.810 1.000 5 1999 2017
dbSNP: rs2305144
rs2305144 		2 70214643 intron variant A/C snv 0.49
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2706770
rs2706770 		2 70244767 intron variant A/G;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2706770
rs2706770 		2 70244767 intron variant A/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1251696640
rs1251696640 		0.925 0.120 2 70212763 missense variant T/C;G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1251696640
rs1251696640 		0.925 0.120 2 70212763 missense variant T/C;G snv
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs13402990
rs13402990 		1.000 0.040 2 70231632 intron variant A/T snv 9.7E-03
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1355281868
rs1355281868 		1.000 0.080 2 70214484 missense variant A/G snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1427575965
rs1427575965 		0.925 0.120 2 70212796 missense variant G/A snv 8.0E-06
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1427575965
rs1427575965 		0.925 0.120 2 70212796 missense variant G/A snv 8.0E-06
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs1427575965
rs1427575965 		0.925 0.120 2 70212796 missense variant G/A snv 8.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2592178
rs2592178 		1.000 0.040 2 70245350 intron variant G/A snv 0.27
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs757332023
rs757332023 		0.925 0.120 2 70212795 missense variant G/A snv 2.0E-05
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs757332023
rs757332023 		0.925 0.120 2 70212795 missense variant G/A snv 2.0E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017