RPS17, ribosomal protein S17, 6218

N. diseases: 28; N. variants: 3
Disease: Anemia, Diamond-Blackfan ×
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: rs116840811
rs116840811 		0.925 0.080 15 82540427 start lost A/C snv
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 1 2010 2010
dbSNP: rs116840812
rs116840812 		0.925 0.080 15 82538939 frameshift variant CT/- delins
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0