F8, coagulation factor VIII, 2157

N. diseases: 149; N. variants: 275
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: rs886039906
rs886039906
1.000 0.080 X 154929022 frameshift variant -/TTGGTTAT ins 3.3E-05
CUI: C0030232
Disease: Pallor
Pallor
Pathological Conditions, Signs and Symptoms 0.700 0