RPS24, ribosomal protein S24, 6229

N. diseases: 42; N. variants: 9
Disease: Anemia, Diamond-Blackfan, 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: rs104894188
rs104894188 		0.925 0.080 10 78037230 stop gained C/T snv
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs104894189
rs104894189 		0.925 0.080 10 78035394 stop gained C/T snv
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs116840806
rs116840806 		0.925 0.080 10 78035352 stop gained AAC/TACGGATAG delins
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554841994
rs1554841994 		0.925 0.080 10 78035589 missense variant A/C snv
CUI: C1857719
Disease: Anemia, Diamond-Blackfan, 3
Anemia, Diamond-Blackfan, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0