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: rs2254958
rs2254958 		0.882 0.120 2 37149148 5 prime UTR variant G/A snv 0.34
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs2254958
rs2254958 		0.882 0.120 2 37149148 5 prime UTR variant G/A snv 0.34
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2254958
rs2254958 		0.882 0.120 2 37149148 5 prime UTR variant G/A snv 0.34
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs2254958
rs2254958 		0.882 0.120 2 37149148 5 prime UTR variant G/A snv 0.34
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2008 2008
dbSNP: rs760326374
rs760326374 		1.000 0.080 2 37139666 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2017 2017