DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs1317187144 ×

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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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1317187144

rs1317187144

GBA

0.851

0.120

1

155239889

missense variant

T/C

snv

4.0E-06

CUI:	C0030567
Disease:	Parkinson Disease

Parkinson Disease

0.040

1.000

2014

2018

dbSNP:

rs1317187144

rs1317187144

GBA

0.851

0.120

1

155239889

missense variant

T/C

snv

4.0E-06

CUI:	C1611743
Disease:	Familial (FPAH)

Familial (FPAH)

0.010

1.000

2014

2014

dbSNP:

rs1317187144

rs1317187144

GBA

0.851

0.120

1

155239889

missense variant

T/C

snv

4.0E-06

CUI:	C0017205
Disease:	Gaucher Disease

Gaucher Disease

0.010

1.000

2017

2017

dbSNP:

rs1317187144

rs1317187144

GBA

0.851

0.120

1

155239889

missense variant

T/C

snv

4.0E-06

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.010

1.000

2017

2017