DisGeNET - a database of gene-disease associations

INF2, inverted formin, FH2 and WH2 domain containing, 64423

N. diseases: 62; N. variants: 21

Disease: Focal Segmental Glomerulosclerosis 5 ×

Variant: rs912928648 ×

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

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs912928648

1.000

0.080

104703427

missense variant

C/T

snv

4.0E-06

CUI:	C2750475
Disease:	Focal Segmental Glomerulosclerosis 5

Focal Segmental Glomerulosclerosis 5

Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases

0.700