Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777211
rs587777211
GFI1B
1.000 0.080 9 132990916 stop gained C/T snv
CUI: C1861194
Disease: Thrombasthenia-Thrombocytopenia, Hereditary
Thrombasthenia-Thrombocytopenia, Hereditary 		0.710 1.000 1 2017 2017
dbSNP: rs527297896
rs527297896
GFI1B
1.000 0.040 9 132988461 missense variant G/T snv 4.9E-04 8.4E-05
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.010 1.000 1 2017 2017
dbSNP: rs527297896
rs527297896
GFI1B
1.000 0.040 9 132988461 missense variant G/T snv 4.9E-04 8.4E-05
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.010 1.000 1 2019 2019