ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Disease: Macrothrombocytopenia ×
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: rs387907348
rs387907348 		0.925 0.040 14 68925641 missense variant C/T snv
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.710 1.000 2 2013 2019
dbSNP: rs387907345
rs387907345 		0.925 0.040 14 68921033 missense variant C/T snv
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs387907350
rs387907350 		0.925 0.040 14 68904658 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs387907349
rs387907349 		0.925 0.040 14 68880030 missense variant G/A snv
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0