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: rs61749392
rs61749392
0.925 0.080 12 6019479 missense variant C/G snv
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0