DisGeNET - a database of gene-disease associations

PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO, C1853202

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

N.diseases _v

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1380794702

rs1380794702

HTRA2 ; LOXL3

1

1.000

2

74532713

missense variant

C/T

snv

4.0E-06

0.700

dbSNP:

rs387906942

rs387906942

AUP1 ; HTRA2

2

0.925

0.040

2

74530433

missense variant

C/G;T

snv

4.3E-06; 4.3E-06

0.700