DisGeNET - a database of gene-disease associations

rs1250676888, IFT172

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.

RETINITIS PIGMENTOSA 71

CUI:	C4225342
Disease:	RETINITIS PIGMENTOSA 71

7

0.925

2

27480124

stop gained

G/A

snv

4.0E-06

0.700

SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY

CUI:	C3810175
Disease:	SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY

8

0.925

2

27480124

stop gained

G/A

snv

4.0E-06

0.700