Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11024102
rs11024102
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0017606
Disease:
Primary angle-closure glaucoma
0.790 GeneticVariation BEFREE Genotype data of the 8 PACG single-nucleotide polymorphisms (SNPs) (rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 on Chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) were available. 31377279 2019
dbSNP: rs11024102
rs11024102
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0017606
Disease:
Primary angle-closure glaucoma
0.790 GeneticVariation BEFREE The 8 PACG single nucleotide polymorphisms (SNPs; rs11024102 at PLEKHA7, rs3753841 at COL11A1, rs1015213 located between PCMTD1 and ST18 son chromosome 8q, rs3816415 at EPDR1, rs1258267 at CHAT, rs736893 at GLIS3, rs7494379 at FERMT2, and rs3739821 mapping in between DPM2 and FAM102A) were genotyped by Taqman assays. 29310965 2018
dbSNP: rs11024102
rs11024102
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0017606
Disease:
Primary angle-closure glaucoma
G 0.790 GeneticVariation GWASCAT Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. 27064256 2016
dbSNP: rs11024102
rs11024102
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0017606
Disease:
Primary angle-closure glaucoma
0.790 GeneticVariation BEFREE The overall result showed that SNPs rs11024102 and rs3753841 were statistically associated with PACG (P < 0.001) in fixed-effects model. 25732101 2015
dbSNP: rs11024102
rs11024102
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0017606
Disease:
Primary angle-closure glaucoma
0.790 GeneticVariation BEFREE Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PLEKHA7 are associated with an increased risk of PAC/PACG in the Han Chinese population, supporting prior reports of the association of COL11A1 and PLEKH7 with angle closure glaucoma. 24854855 2014
dbSNP: rs11024102
rs11024102
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0017606
Disease:
Primary angle-closure glaucoma
0.790 GeneticVariation BEFREE Recently, three genetic susceptibility loci for primary angle closure glaucoma (PACG) were identified: COL11A1 rs3753841, PCMTD1-ST18 rs1015213, and PLEKHA7 rs11024102. 24474268 2014
dbSNP: rs11024102
rs11024102
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0017606
Disease:
Primary angle-closure glaucoma
0.790 GeneticVariation BEFREE SNP rs11024102 showed suggestive association with PACG (p-value 0.035) and no association was found with rs3788317. 23840785 2013
dbSNP: rs11024102
rs11024102
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0017606
Disease:
Primary angle-closure glaucoma
0.790 GeneticVariation BEFREE Genotype-phenotype analysis of SNPs associated with primary angle closure glaucoma (rs1015213, rs3753841 and rs11024102) and ocular biometry in the EPIC-Norfolk Eye Study. 23505305 2013
dbSNP: rs11024102
rs11024102
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0017606
Disease:
Primary angle-closure glaucoma
0.790 GeneticVariation BEFREE Three loci defined by single nucleotide polymorphisms (SNPs) rs11024102 in PLEKHA7, rs3753841 in COL11A1, and rs1015213 between the PCMTD1 and ST18 genes, recently have been associated with primary angle closure glaucoma (PACG). 23847314 2013
dbSNP: rs11024102
rs11024102
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0017606
Disease:
Primary angle-closure glaucoma
0.790 GeneticVariation BEFREE Three susceptibility loci for primary angle-closure glaucoma (PACG) were recently identified: PLEKHA7 rs11024102, COL11A1 rs3753841, and rs1015213 located in the intergenic region between PCMTD1 and ST18. 23920366 2013
dbSNP: rs414992
rs414992
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0871470
Disease:
Systolic Pressure
T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs416258
rs416258
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7130826
rs7130826
Entrez Id: 10819;144100;107984416;112268085
Gene Symbol: OR7E14P;PLEKHA7;LOC107984416;LOC112268085
OR7E14P;PLEKHA7;LOC107984416;LOC112268085
CUI: C0037369
Disease:
Smoking
T 0.700 GeneticVariation GWASCAT Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. 30643258 2019
dbSNP: rs11024074
rs11024074
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C1956346
Disease:
Coronary Artery Disease
T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs11024102
rs11024102
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0040420
Disease:
Tonometry
T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
dbSNP: rs382280
rs382280
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs407354
rs407354
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C2985280
Disease:
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs4141194
rs4141194
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0040420
Disease:
Tonometry
C 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998 2018
dbSNP: rs4141194
rs4141194
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0040420
Disease:
Tonometry
C 0.700 GeneticVariation GWASCAT Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. 29785010 2018
dbSNP: rs4141194
rs4141194
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0040420
Disease:
Tonometry
0.700 GeneticVariation GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594 2018
dbSNP: rs416258
rs416258
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0428883
Disease:
Diastolic blood pressure
C 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs416258
rs416258
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0871470
Disease:
Systolic Pressure
C 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs416258
rs416258
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0001948
Disease:
Alcohol consumption
C 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs448671
rs448671
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0001948
Disease:
Alcohol consumption
T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
dbSNP: rs448671
rs448671
Entrez Id: 144100
Gene Symbol: PLEKHA7
PLEKHA7
CUI: C0871470
Disease:
Systolic Pressure
T 0.700 GeneticVariation GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018