THPO, thrombopoietin, 7066

N. diseases: 185; N. variants: 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: rs6141
rs6141
0.925 0.080 3 184372478 3 prime UTR variant C/G;T snv 4.0E-06; 0.56
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.800 1.000 3 2010 2018
dbSNP: rs78565404
rs78565404
3 184372454 3 prime UTR variant C/T snv 6.4E-02
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 2 2016 2016
dbSNP: rs34623301
rs34623301
3 184375252 intron variant G/A snv 0.31
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs6141
rs6141
0.925 0.080 3 184372478 3 prime UTR variant C/G;T snv 4.0E-06; 0.56
Platelet mean volume determination (procedure)
0.700 1.000 1 2012 2012
dbSNP: rs6141
rs6141
0.925 0.080 3 184372478 3 prime UTR variant C/G;T snv 4.0E-06; 0.56
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
Digestive System Diseases; Infections 0.700 1.000 1 2011 2011
dbSNP: rs1181555052
rs1181555052
1.000 0.080 3 184373456 missense variant G/A snv 7.0E-06
Congenital amegakaryocytic thrombocytopenia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1208732776
rs1208732776
1.000 0.120 3 184378252 missense variant G/A snv 7.0E-06
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1293657674
rs1293657674
0.882 0.080 3 184378311 frameshift variant AC/- delins 1.4E-05
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
Neoplasms; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2000 2000
dbSNP: rs1293657674
rs1293657674
0.882 0.080 3 184378311 frameshift variant AC/- delins 1.4E-05
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.010 < 0.001 1 2000 2000
dbSNP: rs1293657674
rs1293657674
0.882 0.080 3 184378311 frameshift variant AC/- delins 1.4E-05
CUI: C4520840
Disease: Erythroleukemia (Erythroid/Myeloid)
Erythroleukemia (Erythroid/Myeloid)
Neoplasms; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2000 2000
dbSNP: rs1466463978
rs1466463978
1.000 0.080 3 184372749 missense variant A/G snv 7.0E-06
Congenital amegakaryocytic thrombocytopenia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs6141
rs6141
0.925 0.080 3 184372478 3 prime UTR variant C/G;T snv 4.0E-06; 0.56
CUI: C0011311
Disease: Dengue Fever
Dengue Fever
Infections 0.010 1.000 1 2016 2016
dbSNP: rs746364606
rs746364606
1.000 0.040 3 184372642 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs760797899
rs760797899
3 184375917 missense variant G/A snv 8.0E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013