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: rs121434478
rs121434478 		1.000 0.200 2 215344828 missense variant A/G snv 1.2E-05 2.1E-05
CUI: C1837530
Disease: AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 1 2004 2004
dbSNP: rs2372536
rs2372536 		0.827 0.160 2 215325297 missense variant C/G snv 0.33 0.25
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.030 1.000 3 2004 2016
dbSNP: rs12995526
rs12995526 		2 215333248 intron variant T/C snv 0.47
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2372536
rs2372536 		0.827 0.160 2 215325297 missense variant C/G snv 0.33 0.25
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs2372536
rs2372536 		0.827 0.160 2 215325297 missense variant C/G snv 0.33 0.25
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2372536
rs2372536 		0.827 0.160 2 215325297 missense variant C/G snv 0.33 0.25
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs2372536
rs2372536 		0.827 0.160 2 215325297 missense variant C/G snv 0.33 0.25
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 < 0.001 1 2017 2017
dbSNP: rs951055955
rs951055955 		1.000 0.080 2 215326849 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2014 2014