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
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs74315451
rs74315451
1.000 0.120 21 34880665 missense variant C/G snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1569008655
rs1569008655
21 34799310 stop gained G/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1569061762
rs1569061762
21 34859476 missense variant C/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1569061768
rs1569061768
1.000 0.120 21 34859477 stop gained G/A snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
Hemic and Lymphatic Diseases 0.700 0