RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Disease: Anemia, Diamond-Blackfan ×
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: rs869066130
rs869066130 		1.000 0.080 19 41869725 frameshift variant AA/-;A;AAA delins
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 5 1999 2015
dbSNP: rs1060503688
rs1060503688 		1.000 0.080 19 41869724 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: rs1555841301
rs1555841301 		0.925 0.080 19 41869043 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: rs1555841356
rs1555841356 		1.000 0.080 19 41869150 frameshift variant -/TG 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: rs104894711
rs104894711 		0.925 0.080 19 41869042 missense variant C/T snv
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs138938035
rs138938035 		1.000 0.080 19 41860777 start lost G/A;T snv
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017