Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Glanzmann Thrombasthenia, Autosomal Dominant
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
5 0.925 0.120 17 47307567 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.700 0
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.925 0.120 17 47307567 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
THROMBOCYTOPENIA 2 (disorder)
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
4 0.925 0.120 17 47307567 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013