Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554996833
rs1554996833
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
C 0.700 CausalMutation CLINVAR Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. 29753808 2018