RUNX1, RUNX family transcription factor 1, 861

N. diseases: 412; N. variants: 75
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy ×
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: rs74315450
rs74315450 		0.851 0.120 21 34859485 missense variant C/T snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.800 1.000 9 1999 2017
dbSNP: rs1060499616
rs1060499616 		1.000 0.120 21 34880568 missense variant C/T snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.800 1.000 6 1999 2018
dbSNP: rs1057519748
rs1057519748 		0.827 0.120 21 34859486 stop gained G/A snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 4 1999 2017
dbSNP: rs121912498
rs121912498 		1.000 0.120 21 34886866 missense variant T/C snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 3 2002 2013
dbSNP: rs267607026
rs267607026 		1.000 0.120 21 34880598 missense variant G/T snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 2 2009 2016
dbSNP: rs74315451
rs74315451 		1.000 0.120 21 34880665 missense variant C/G snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 2 2002 2013
dbSNP: rs121912499
rs121912499 		1.000 0.120 21 34799407 stop gained G/T snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2002 2002
dbSNP: rs1555884790
rs1555884790 		1.000 0.120 21 34792164 frameshift variant -/CG delins
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1555889984
rs1555889984 		0.925 0.120 21 34834536 stop gained C/A snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1555899735
rs1555899735 		1.000 0.120 21 34886878 missense variant A/T snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1569002296
rs1569002296 		1.000 0.120 21 34792415 stop gained G/T snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1569061768
rs1569061768 		1.000 0.120 21 34859477 stop gained G/A snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 1999 1999
dbSNP: rs587776809
rs587776809 		1.000 0.120 21 34880714 splice acceptor variant C/A;T snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs587776810
rs587776810 		1.000 0.120 21 34880554 splice region variant T/- del
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2002 2002
dbSNP: rs587776811
rs587776811 		1.000 0.120 21 34880616 frameshift variant GCTGCGGT/- del
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1060502579
rs1060502579 		1.000 0.120 21 34886842 splice donor variant C/G;T snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1555899813
rs1555899813 		1.000 0.120 21 34886977 frameshift variant -/CC delins
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1569084116
rs1569084116 		1.000 0.120 21 34886880 missense variant T/G snv
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1569084530
rs1569084530 		1.000 0.120 21 34887000 frameshift variant -/GGCGTCCGGGGCGCCCAGCGGCAACGCC delins
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs895580593
rs895580593 		1.000 0.120 21 34792596 missense variant T/A;C;G snv 4.9E-06
CUI: C1832388
Disease: Platelet Disorder, Familial, with Associated Myeloid Malignancy
Platelet Disorder, Familial, with Associated Myeloid Malignancy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019