DisGeNET - a database of gene-disease associations

Polycystic Kidney, Type 1 Autosomal Dominant Disease, C0887850

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:

rs869312977

rs869312977

SEC63

1

1.000

0.120

6

107921796

splice donor variant

C/T

snv

8.0E-06

1.4E-05

0.700

dbSNP:

rs869312978

rs869312978

SEC63

1

1.000

0.120

6

107929419

frameshift variant

C/-

del

0.700