DisGeNET - a database of gene-disease associations

rs121912774, COL17A1

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.

Adult junctional epidermolysis bullosa (disorder)

CUI:	C0268374
Disease:	Adult junctional epidermolysis bullosa (disorder)

35

0.925

0.080

10

104072062

stop gained

G/A

snv

4.0E-06

0.700

Junctional Epidermolysis Bullosa

CUI:	C0079301
Disease:	Junctional Epidermolysis Bullosa

9

0.925

0.080

10

104072062

stop gained

G/A

snv

4.0E-06

0.010

1.000

2000

2000