RPS10-NUDT3, RPS10-NUDT3 readthrough, 100529239

N. diseases: 8; N. variants: 6
Disease: Diamond-Blackfan Anemia 9 ×
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: rs267607021
rs267607021 		1.000 0.080 6 34425219 start lost C/T snv
CUI: C2750081
Disease: Diamond-Blackfan Anemia 9
Diamond-Blackfan Anemia 9 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs267607022
rs267607022 		1.000 0.080 6 34421793 stop gained G/A snv
CUI: C2750081
Disease: Diamond-Blackfan Anemia 9
Diamond-Blackfan Anemia 9 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0