RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
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: rs104894711
rs104894711
0.925 0.080 19 41869042 missense variant C/T snv
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 8 1999 2008
dbSNP: rs786200936
rs786200936
1.000 0.080 19 41869722 missense variant G/A snv
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 8 1999 2008
dbSNP: rs104894717
rs104894717
1.000 0.080 19 41860817 missense variant G/A;T snv 8.0E-06
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1999 2008
dbSNP: rs147508369
rs147508369
1.000 0.080 19 41861204 missense variant C/T snv 2.5E-04 3.8E-04
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1999 2008
dbSNP: rs1555841301
rs1555841301
0.925 0.080 19 41869043 missense variant G/A snv
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1999 2008
dbSNP: rs782329429
rs782329429
1.000 0.080 19 41860823 missense variant G/A;C snv 1.2E-05
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 8 1999 2008
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: rs104894716
rs104894716
1.000 0.080 19 41861138 stop gained G/A snv
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
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: rs121908649
rs121908649
1.000 0.080 19 41869108 stop gained A/T snv
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
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: rs1555841379
rs1555841379
1.000 0.080 19 41869217 splice region variant A/C snv
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1568796003
rs1568796003
1.000 0.080 19 41869708 frameshift variant -/CT delins
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs61762293
rs61762293
1.000 0.080 19 41869138 stop gained C/T snv
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs786200935
rs786200935
1.000 0.080 19 41869163 frameshift variant G/- delins
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
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
dbSNP: rs782627671
rs782627671
1.000 0.040 19 41869159 missense variant C/T snv 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs782627671
rs782627671
1.000 0.040 19 41869159 missense variant C/T snv 4.0E-06
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018