RPS17, ribosomal protein S17, 6218

N. diseases: 28; N. variants: 3
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: C2675860
Disease: Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs116840812
rs116840812
0.925 0.080 15 82538939 frameshift variant CT/- delins
CUI: C2675860
Disease: Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs6991
rs6991
1.000 0.080 15 82538982 stop gained A/C;G snv
CUI: C2675860
Disease: Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0