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: rs379440
rs379440 		5 112357674 intron variant T/C snv 3.5E-02
CUI: C1167912
Disease: Coagulation factor measurement
Coagulation factor measurement 		0.700 1.000 1 2011 2011
dbSNP: rs379440
rs379440 		5 112357674 intron variant T/C snv 3.5E-02
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2011 2011
dbSNP: rs73227498
rs73227498 		1.000 0.080 5 112150207 intron variant A/T snv 0.11
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs730882207
rs730882207 		0.925 0.160 5 112204453 missense variant G/A snv 2.4E-05 2.1E-05
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs730882207
rs730882207 		0.925 0.160 5 112204453 missense variant G/A snv 2.4E-05 2.1E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0