Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7384878
rs7384878
Entrez Id: 5379;101735302;101752399
Gene Symbol: PMS2P1;STAG3L5P;STAG3L5P-PVRIG2P-PILRB
PMS2P1;STAG3L5P;STAG3L5P-PVRIG2P-PILRB
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: rs7384878
rs7384878
Entrez Id: 5379;101735302;101752399
Gene Symbol: PMS2P1;STAG3L5P;STAG3L5P-PVRIG2P-PILRB
PMS2P1;STAG3L5P;STAG3L5P-PVRIG2P-PILRB
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs35305377
rs35305377
Entrez Id: 5379;101735302;101752399
Gene Symbol: PMS2P1;STAG3L5P;STAG3L5P-PVRIG2P-PILRB
PMS2P1;STAG3L5P;STAG3L5P-PVRIG2P-PILRB
CUI: C0002395
Disease:
Alzheimer's Disease
0.700 GeneticVariation GWASCAT GWAS on family history of Alzheimer's disease. 29777097 2018
dbSNP: rs184562466
rs184562466
Entrez Id: 5379
Gene Symbol: PMS2P1
PMS2P1
CUI: C0518015
Disease:
Hemoglobin measurement
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016