Source: CLINVAR

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: rs3733402
rs3733402
KLKB1
1.000 0.040 4 186236880 missense variant G/A;C snv 0.54
CUI: C0272339
Disease: Prekallikrein deficiency
Prekallikrein deficiency 		0.800 1.000 0 2003 2007