RPL35A, ribosomal protein L35a, 6165

N. diseases: 31; N. variants: 5
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: rs116840808
rs116840808 		0.925 0.080 3 197951244 missense variant G/A snv
CUI: C2675859
Disease: Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 1 2008 2008
dbSNP: rs1560120302
rs1560120302 		1.000 0.080 3 197951264 frameshift variant GA/- delins
CUI: C2675859
Disease: Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 2008 2015
dbSNP: rs116840807
rs116840807 		0.925 0.080 3 197951225 inframe deletion CTT/- delins
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs116840807
rs116840807 		0.925 0.080 3 197951225 inframe deletion CTT/- delins
CUI: C2675859
Disease: Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs116840808
rs116840808 		0.925 0.080 3 197951244 missense variant G/A snv
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs116840809
rs116840809 		0.925 0.080 3 197954142 stop gained C/T snv
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs116840809
rs116840809 		0.925 0.080 3 197954142 stop gained C/T snv
CUI: C2675859
Disease: Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1553811551
rs1553811551 		1.000 0.080 3 197954050 stop gained G/A snv
CUI: C2675859
Disease: Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 5 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0