DisGeNET - a database of gene-disease associations

rs199422309, TERT

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.

Dyskeratosis Congenita

CUI:	C0265965
Disease:	Dyskeratosis Congenita

146

0.925

0.120

5

1294770

splice donor variant

C/T

snv

0.700

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1

CUI:	C3553617
Disease:	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1

20

0.925

0.120

5

1294770

splice donor variant

C/T

snv

0.700