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: rs3924389
rs3924389 		9 93444717 3 prime UTR variant G/C;T snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs140119177
rs140119177 		0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs140119177
rs140119177 		0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs140119177
rs140119177 		0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04
CUI: C0746102
Disease: Chronic lung disease
Chronic lung disease 		Respiratory Tract Diseases 0.700 0
dbSNP: rs140119177
rs140119177 		0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs140119177
rs140119177 		0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs140119177
rs140119177 		0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs140119177
rs140119177 		0.851 0.160 9 93447639 missense variant G/A snv 6.8E-05 2.2E-04
CUI: C4317146
Disease: Acid reflux
Acid reflux 		0.700 0