Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs115986297
rs115986297
GMDS
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs115986297
rs115986297
GMDS
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs115986297
rs115986297
GMDS
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs115986297
rs115986297
GMDS
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252

2016
dbSNP: rs11969985
rs11969985
GMDS
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		G 0.700 GeneticVariation GWASCAT Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. 25173105

2014
dbSNP: rs17134767
rs17134767
GMDS
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs17134767
rs17134767
GMDS
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs3778519
rs3778519
GMDS
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs3778523
rs3778523
GMDS
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 GeneticVariation GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594

2018
dbSNP: rs62390617
rs62390617
GMDS
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019
dbSNP: rs6914086
rs6914086
GMDS
CUI: C0040420
Disease: Tonometry
Tonometry 		T 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: rs722585
rs722585
GMDS
CUI: C0005890
Disease: Body Height
Body Height 		0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340

2019
dbSNP: rs722585
rs722585
GMDS
CUI: C0040420
Disease: Tonometry
Tonometry 		G 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: rs7757144
rs7757144
GMDS
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		A 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528

2019
dbSNP: rs9378319
rs9378319
GMDS
CUI: C0040420
Disease: Tonometry
Tonometry 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998

2018
dbSNP: rs9378671
rs9378671
GMDS
CUI: C0040420
Disease: Tonometry
Tonometry 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify new loci influencing intraocular pressure. 29617998

2018
dbSNP: rs9392348
rs9392348
GMDS
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		G 0.700 GeneticVariation GWASCAT A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci. 29891935

2018
dbSNP: rs9405157
rs9405157
GMDS
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 GeneticVariation GWASCAT Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. 30054594

2018
dbSNP: rs9405157
rs9405157
GMDS
CUI: C0040420
Disease: Tonometry
Tonometry 		T 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: rs9503012
rs9503012
GMDS ; LOC107986513
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		0.010 GeneticVariation BEFREE GMDS rs9503012 C>T and PTGFR rs3766355 A>C may be associated with IOP response to latanoprost in POAG patients. 27862086

2017