DisGeNET - a database of gene-disease associations

rs1302726543, PKD2

N. diseases: 2

Source: ALL

Results per page

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Polycystic Kidney, Autosomal Dominant

CUI:	C0085413
Disease:	Polycystic Kidney, Autosomal Dominant

35

0.925

0.120

4

88019499

stop gained

C/T

snv

7.0E-06

0.700

1.000

2012

2016

Polycystic kidney disease, type 2

CUI:	C2751306
Disease:	Polycystic kidney disease, type 2

41

0.925

0.120

4

88019499

stop gained

C/T

snv

7.0E-06

0.700