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: rs771884087
rs771884087 		1.000 0.080 20 45253726 synonymous variant T/C snv
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs771884087
rs771884087 		1.000 0.080 20 45253726 synonymous variant T/C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs779591039
rs779591039 		0.882 0.040 20 45253712 missense variant G/A snv
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs779591039
rs779591039 		0.882 0.040 20 45253712 missense variant G/A snv
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs779591039
rs779591039 		0.882 0.040 20 45253712 missense variant G/A snv
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2019 2019