RPS7, ribosomal protein S7, 6201

N. diseases: 52; N. variants: 2
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: rs1057519624
rs1057519624 		1.000 0.080 2 3575816 splice acceptor variant G/T snv
CUI: C2675511
Disease: Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs397507554
rs397507554 		0.925 0.080 2 3575889 splice donor 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: rs397507554
rs397507554 		0.925 0.080 2 3575889 splice donor variant G/A snv
CUI: C2675511
Disease: Diamond-Blackfan Anemia 8
Diamond-Blackfan Anemia 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0