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: rs587777204
rs587777204 		1.000 0.120 17 80138200 missense variant T/C snv
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
Richieri Costa Pereira syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.800 1.000 1 2014 2014
dbSNP: rs2361710
rs2361710 		17 80138078 intron variant T/C snv 0.47
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016