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: rs112565881
rs112565881
1.000 0.120 11 57611937 splice donor variant G/A;T snv
CUI: C2717906
Disease: Hereditary Angioedema Type I
Hereditary Angioedema Type I
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.700 0