Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777666
rs587777666
ATOH7
0.810 GeneticVariation BEFREE Our results strongly suggest that autosomal recessive persistent hyperplastic primary vitreous is caused by N46H and is etiologically related to nonsyndromic congenital retinal nonattachment. 22645276

2012
dbSNP: rs587777666
rs587777666
ATOH7
0.810 GeneticVariation UNIPROT ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. 22645276

2012
dbSNP: rs587777666
rs587777666
ATOH7
0.810 GeneticVariation UNIPROT Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. 22068589

2012
dbSNP: rs587777666
rs587777666
ATOH7
0.810 GeneticVariation UNIPROT Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. 21441919

2011
dbSNP: rs587777666
rs587777666
ATOH7
G 0.810 CausalMutation CLINVAR