Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12128198
rs12128198
Entrez Id: 64123
Gene Symbol: ADGRL4
ADGRL4
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs41313381
rs41313381
Entrez Id: 64123
Gene Symbol: ADGRL4
ADGRL4
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs41313381
rs41313381
Entrez Id: 64123
Gene Symbol: ADGRL4
ADGRL4
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs41313381
rs41313381
Entrez Id: 64123
Gene Symbol: ADGRL4
ADGRL4
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs41313381
rs41313381
Entrez Id: 64123
Gene Symbol: ADGRL4
ADGRL4
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs228503
rs228503
Entrez Id: 64123
Gene Symbol: ADGRL4
ADGRL4
CUI: C1834819
Disease:
MYXOMATOUS MITRAL VALVE PROLAPSE 1 		0.010 GeneticVariation BEFREE MMP2 rs228503 was the only SNP significantly associated with the FMV/MVP syndrome as compared to patients with FMV/MVP without the syndrome (odds ratio 2.41, 95% CI 1.08-5.40, p = 0.032). 28750369 2018
dbSNP: rs228503
rs228503
Entrez Id: 64123
Gene Symbol: ADGRL4
ADGRL4
CUI: C0026267
Disease:
Mitral Valve Prolapse Syndrome 		0.010 GeneticVariation BEFREE MMP2 rs228503 was the only SNP significantly associated with the FMV/MVP syndrome as compared to patients with FMV/MVP without the syndrome (odds ratio 2.41, 95% CI 1.08-5.40, p = 0.032). 28750369 2018
dbSNP: rs228503
rs228503
Entrez Id: 64123
Gene Symbol: ADGRL4
ADGRL4
CUI: C1857276
Disease:
Trichohepatoenteric Syndrome 		0.010 GeneticVariation BEFREE MMP2 rs228503 was the only SNP significantly associated with the FMV/MVP syndrome as compared to patients with FMV/MVP without the syndrome (odds ratio 2.41, 95% CI 1.08-5.40, p = 0.032). 28750369 2018