Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals. 17210859

2007
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma. 17499207

2007
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Novel myocilin mutation in a Chinese family with juvenile-onset open-angle glaucoma. 16401791

2006
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients. 15025728

2004
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma. 15255110

2004
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography. 15534471

2004
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. 12860809

2003
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. 12872267

2003
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Founder TIGR/myocilin mutations for glaucoma in the Québec population. 12189160

2002
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. 12362081

2002
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Genetic screening in a large family with juvenile onset primary open angle glaucoma. 10873982

2000
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Mutations in the third exon of the MYOC gene in spanish patients with primary open angle glaucoma. 10916185

2000
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. 11004290

2000
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. 10196380

1999
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Detection of a new TIGR gene mutation in a Japanese family with primary open angle glaucoma. 10340788

1999
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Novel mutations in the TIGR gene in early and late onset open angle glaucoma. 9521427

1998
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. 9697688

1998
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis. 9490287

1998
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma. 9792882

1998
dbSNP: rs998968146
rs998968146
MYOC ; MYOCOS
0.700 GeneticVariation UNIPROT Identification of a gene that causes primary open angle glaucoma. 9005853

1997