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: rs741090
rs741090 		12 6946217 upstream gene variant G/A snv 0.31
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs587777698
rs587777698 		1.000 0.200 12 6944607 stop gained C/T snv
CUI: C1857512
Disease: Temtamy syndrome
Temtamy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1435682678
rs1435682678 		1.000 0.040 12 6959928 missense variant G/A snv 7.0E-06
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs201345298
rs201345298 		1.000 0.120 12 6955413 missense variant C/A snv 3.8E-04 4.0E-04
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015