Disease: Robinow Sorauf syndrome ×
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: rs104894065
rs104894065 		1.000 0.080 7 19117111 stop gained G/A snv
CUI: C1867146
Disease: Robinow Sorauf syndrome
Robinow Sorauf syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0