Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs773243225
rs773243225
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
CUI: C4751232
Disease:
Rare isolated myopia 		A 0.700 GeneticVariation CLINVAR Clinical Characterization of LRPAP1-Related Pediatric High Myopia. 26271838 2016
dbSNP: rs773243225
rs773243225
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
CUI: C4751232
Disease:
Rare isolated myopia 		A 0.700 GeneticVariation CLINVAR Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. 25525168 2014
dbSNP: rs773243225
rs773243225
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
CUI: C4751232
Disease:
Rare isolated myopia 		A 0.700 GeneticVariation CLINVAR Mutations in LRPAP1 are associated with severe myopia in humans. 23830514 2013
dbSNP: rs1794429
rs1794429
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
CUI: C0027051
Disease:
Myocardial Infarction 		0.700 GeneticVariation GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
dbSNP: rs398122836
rs398122836
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
CUI: C3809482
Disease:
MYOPIA 23, AUTOSOMAL RECESSIVE 		C 0.700 CausalMutation CLINVAR
dbSNP: rs786205127
rs786205127
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
CUI: C3809482
Disease:
MYOPIA 23, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR
dbSNP: rs786205216
rs786205216
Entrez Id: 4043
Gene Symbol: LRPAP1
LRPAP1
CUI: C3809482
Disease:
MYOPIA 23, AUTOSOMAL RECESSIVE 		T 0.700 CausalMutation CLINVAR