RUNX1, RUNX family transcription factor 1, 861

N. diseases: 412; N. variants: 75
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
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
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: rs9979383
rs9979383
0.925 0.200 21 35343463 intron variant C/G;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 3 2012 2016
dbSNP: rs8133843
rs8133843
1.000 0.120 21 35365944 intron variant G/A snv 0.65
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 2 2014 2019
dbSNP: rs16993221
rs16993221
21 35477121 intron variant A/T snv 2.6E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.800 1.000 1 2013 2013
dbSNP: rs2014300
rs2014300
0.851 0.080 21 34985564 intron variant A/G;T snv 0.75
Squamous cell carcinoma of esophagus
Digestive System Diseases; Neoplasms 0.720 1.000 3 2012 2019
dbSNP: rs1057519748
rs1057519748
0.827 0.120 21 34859486 stop gained G/A snv
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: rs1057519749
rs1057519749
1.000 0.040 21 34880579 missense variant C/A;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 3 2014 2014
dbSNP: rs121912498
rs121912498
1.000 0.120 21 34886866 missense variant T/C snv
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: rs1057519750
rs1057519750
1.000 0.040 21 34880580 missense variant C/T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 2 2009 2014
dbSNP: rs11088309
rs11088309
0.925 0.080 21 35092334 intron variant C/A;G snv 9.3E-02
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma
0.700 1.000 2 2019 2019
dbSNP: rs267607026
rs267607026
1.000 0.120 21 34880598 missense variant G/T snv
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: rs68088846
rs68088846
0.807 0.080 21 34835870 intron variant G/A snv 0.27
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs68088846
rs68088846
0.807 0.080 21 34835870 intron variant G/A snv 0.27
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs68088846
rs68088846
0.807 0.080 21 34835870 intron variant G/A snv 0.27
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs68088846
rs68088846
0.807 0.080 21 34835870 intron variant G/A snv 0.27
CUI: C0029489
Disease: Other alopecia
Other alopecia
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs68088846
rs68088846
0.807 0.080 21 34835870 intron variant G/A snv 0.27
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs68088846
rs68088846
0.807 0.080 21 34835870 intron variant G/A snv 0.27
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1
0.700 1.000 2 2016 2017
dbSNP: rs74315451
rs74315451
1.000 0.120 21 34880665 missense variant C/G snv
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: rs9979383
rs9979383
0.925 0.200 21 35343463 intron variant C/G;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 2 2016 2019
dbSNP: rs1057519748
rs1057519748
0.827 0.120 21 34859486 stop gained G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 1999 1999
dbSNP: rs11088309
rs11088309
0.925 0.080 21 35092334 intron variant C/A;G snv 9.3E-02
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11701104
rs11701104
1.000 0.080 21 34866220 intron variant C/T snv 0.18
CUI: C0002170
Disease: Alopecia
Alopecia
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs11701453
rs11701453
21 34966619 intron variant C/A;G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
Cardiovascular Diseases 0.700 1.000 1 2010 2010
dbSNP: rs117440128
rs117440128
1.000 0.080 21 35801864 intron variant G/A snv 6.2E-03
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2019 2019