OPTC, opticin, 26254

N. diseases: 14; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116126526
rs116126526
Entrez Id: 26254;105371688
Gene Symbol: OPTC;LOC105371688
OPTC;LOC105371688
CUI: C0271183
Disease:
Severe myopia 		0.010 GeneticVariation BEFREE Five changes were detected in opticin, Thr177Arg, Arg229His, Arg325Trp, Gly329Ser, and Arg330His, and all but one (Arg229His) were shown to cosegregate with high myopia in families with incomplete penetrance. 17117407 2007
dbSNP: rs573018317
rs573018317
Entrez Id: 26254
Gene Symbol: OPTC
OPTC
CUI: C0271183
Disease:
Severe myopia 		0.010 GeneticVariation BEFREE Five changes were detected in opticin, Thr177Arg, Arg229His, Arg325Trp, Gly329Ser, and Arg330His, and all but one (Arg229His) were shown to cosegregate with high myopia in families with incomplete penetrance. 17117407 2007
dbSNP: rs150633473
rs150633473
Entrez Id: 26254
Gene Symbol: OPTC
OPTC
CUI: C0242383
Disease:
Age related macular degeneration 		0.010 GeneticVariation BEFREE Examination of the other AMD afflicted family members showed that the OPTC Arg229Cys variant did not segregate with the disorder within the family. 12019215 2002