DisGeNET - a database of gene-disease associations

Parkinson Disease, C0030567

Variant: rs75548401 ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs75548401

GBA

0.030

GeneticVariation

BEFREE

We detected modest PD risk variant p.N409S (rs76763715) in one case, p.E365K (rs2230288) in 12 cases, and p.T408 M (rs75548401) in seven cases, one of whom also had p.E365K.

31809948

2020

dbSNP:

rs75548401

GBA

0.030

GeneticVariation

BEFREE

Here, we established that the GBA variant (p.T408M) is associated with PD risk and age at onset.

27094865

2016

dbSNP:

rs75548401

GBA

0.030

GeneticVariation

BEFREE

The frequency (6.67%) of E326K and T369M in PD patients is comparable to 7.27% in control individuals (X(2) = 0.042, p = 0.8376), further supporting that these two variants have no pathological effects on PD.

26000814

2016