rs2234927, MYOCOS;MYOC

N. diseases: 4
Disease: Glaucoma, Primary Open Angle ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
0.020 GeneticVariation BEFREE Five amino acid sequence changes of the myocilin were identified: Arg46Stop (one NTG), Arg76Lys (four NTG, 10 POAG, seven control), Arg158Gln (one NTG, one POAG, one control) found in only Japanese, Asp208Glu (four NTG, three POAG, one control), Pro481Ser (one control).Pro481Ser was novel. 11298682 2001
Glaucoma, Primary Open Angle
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
0.020 GeneticVariation BEFREE Four had been reported: Arg46Stop in subjects with and without POAG, including an unaffected 77-year-old woman homozygous for Arg46Stop; Gly12Arg in subjects without glaucoma; and Asp208Glu and Thr353Ile in subjects with and without POAG. 10798654 2000