Source: UNIPROT

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: rs483352854
rs483352854
1.000 0.080 1 173910875 missense variant G/T snv
CUI: C0272375
Disease: Antithrombin III Deficiency
Antithrombin III Deficiency
0.700 1.000 20 1986 2013