Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34173062
rs34173062
Entrez Id: 81858;84232
Gene Symbol: SHARPIN;MAF1
SHARPIN;MAF1
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs34173062
rs34173062
Entrez Id: 81858;84232
Gene Symbol: SHARPIN;MAF1
SHARPIN;MAF1
CUI: C0035242
Disease:
Respiratory Tract Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs34173062
rs34173062
Entrez Id: 81858;84232
Gene Symbol: SHARPIN;MAF1
SHARPIN;MAF1
CUI: C0200641
Disease:
Blood basophil count (lab test) 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs34173062
rs34173062
Entrez Id: 81858;84232
Gene Symbol: SHARPIN;MAF1
SHARPIN;MAF1
CUI: C0200638
Disease:
Eosinophil count procedure 		A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs572750141
rs572750141
Entrez Id: 81858
Gene Symbol: SHARPIN
SHARPIN
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset 		0.010 GeneticVariation BEFREE We finally identified a rare nonsynonymous variant, rs572750141 (NM_030974.3:p.Gly186Arg), in SHARPIN that was potentially associated with increased risk of LOAD (corrected P = 8.05 × 10<sup>- 5</sup>, odds ratio = 6.1). 31216982 2019
dbSNP: rs572750141
rs572750141
Entrez Id: 81858
Gene Symbol: SHARPIN
SHARPIN
CUI: C0494463
Disease:
Alzheimer Disease, Late Onset 		0.010 GeneticVariation BEFREE We finally identified a rare nonsynonymous variant, rs572750141 (NM_030974.3:p.Gly186Arg), in SHARPIN that was potentially associated with increased risk of LOAD (corrected P = 8.05 × 10<sup>- 5</sup>, odds ratio = 6.1). 31216982 2019