RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Disease: Diamond-Blackfan Anemia 1 ×
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: rs1568796003
rs1568796003 		1.000 0.080 19 41869708 frameshift variant -/CT delins
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0