Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754829637
rs754829637
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle
0.010 GeneticVariation BEFREE Mutations (Q368X, Y437H, A427T) were selected to represent proteins with differing POAG-causing potency (Q368X > Y437H > A427T) and intracellular retention behavior (Q368X and Y437H retained, A427T released). 26396484 2015