Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7023900
rs7023900
Entrez Id: 5524
Gene Symbol: PTPA
PTPA
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: rs7023900
rs7023900
Entrez Id: 5524
Gene Symbol: PTPA
PTPA
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10988217
rs10988217
Entrez Id: 5524
Gene Symbol: PTPA
PTPA
CUI: C0917799
Disease:
Hypersomnia
G 0.700 GeneticVariation GWASCAT A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia. 30266950 2018
dbSNP: rs17481720
rs17481720
Entrez Id: 5524
Gene Symbol: PTPA
PTPA
CUI: C0037369
Disease:
Smoking
0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs17481720
rs17481720
Entrez Id: 5524
Gene Symbol: PTPA
PTPA
CUI: C1519383
Disease:
Smoking Behaviors
0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs754033690
rs754033690
Entrez Id: 5524
Gene Symbol: PTPA
PTPA
CUI: C2936694
Disease:
Swyer Syndrome
0.010 GeneticVariation BEFREE Results We have identified three different homozygous PPP2R3C variants, c.308T>C (p.L103P), c.578T>C (p.L193S) and c.1049T>C (p.F350S), in four girls with 46, XY complete gonadal dysgenesis. 30893644 2019
dbSNP: rs913275
rs913275
Entrez Id: 5524
Gene Symbol: PTPA
PTPA
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE These results suggest that rs7768046 and rs91</span>3275 both influence CSF tau levels in an AD-associated manner. 22927204 2012