Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906942
rs387906942
Entrez Id: 550;27429
Gene Symbol: AUP1;HTRA2
AUP1;HTRA2
CUI: C1853202
Disease:
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		G 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs72470544
rs72470544
Entrez Id: 550;27429
Gene Symbol: AUP1;HTRA2
AUP1;HTRA2
CUI: C0030567
Disease:
Parkinson Disease 		0.020 GeneticVariation BEFREE In addition, we analyzed the occurrence of the OMI/HTRA2 variants A141S and G399S in Swedish case-control materials for AD and PD and found a weak association of A141S with AD, but not with PD. 21163861 2011
dbSNP: rs72470544
rs72470544
Entrez Id: 550;27429
Gene Symbol: AUP1;HTRA2
AUP1;HTRA2
CUI: C0030567
Disease:
Parkinson Disease 		0.020 GeneticVariation BEFREE Moreover, we identified a novel A141S polymorphism that was associated with PD (P<0.05). 15961413 2005
dbSNP: rs765943892
rs765943892
Entrez Id: 550;27429
Gene Symbol: AUP1;HTRA2
AUP1;HTRA2
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE Although the functional assays are promising, a larger cohort of both cases and controls should be screened to clarify the role of R36W in Taiwanese PD pathogenicity. 24337630 2014
dbSNP: rs387906942
rs387906942
Entrez Id: 550;27429
Gene Symbol: AUP1;HTRA2
AUP1;HTRA2
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE Further large-scale association studies are warranted to confirm the role of HTRA2 Pro143Ala variant in the risk of PD. 21701785 2011
dbSNP: rs72470544
rs72470544
Entrez Id: 550;27429
Gene Symbol: AUP1;HTRA2
AUP1;HTRA2
CUI: C0002395
Disease:
Alzheimer's Disease 		0.010 GeneticVariation BEFREE In addition, we analyzed the occurrence of the OMI/HTRA2 variants A141S and G399S in Swedish case-control materials for AD and PD and found a weak association of A141S with AD, but not with PD. 21163861 2011