Disease: MYOPIA 22, AUTOSOMAL DOMINANT ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200857997
rs200857997
Entrez Id: 201973
Gene Symbol: PRIMPOL
PRIMPOL
CUI: C3809464
Disease:
MYOPIA 22, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Human PrimPol mutation associated with high myopia has a DNA replication defect. 25262353 2014
dbSNP: rs200857997
rs200857997
Entrez Id: 201973
Gene Symbol: PRIMPOL
PRIMPOL
CUI: C3809464
Disease:
MYOPIA 22, AUTOSOMAL DOMINANT 		0.800 GeneticVariation UNIPROT Exome sequencing reveals CCDC111 mutation associated with high myopia. 23579484 2013
dbSNP: rs200857997
rs200857997
Entrez Id: 201973
Gene Symbol: PRIMPOL
PRIMPOL
CUI: C3809464
Disease:
MYOPIA 22, AUTOSOMAL DOMINANT 		G 0.800 CausalMutation CLINVAR