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FLASH GENE
Symbol SERPING1 contributors: mct - updated : 29-11-2017
HGNC name serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)
HGNC id 1228
ASSOCIATED DISORDERS
corresponding disease(s) HAE1
Susceptibility to age-related macular degeneration (AMD) and to polypoidal choroidal vasculopathy (PCV)
Variant & Polymorphism SNP
  • SNP rs2511989 was not significantly associated with all forms of AMD, neovascular AMD, or PCV in East Asians but was associated with AMD in Caucasians
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS