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