DisGeNET - a database of gene-disease associations

HEMOCHROMATOSIS, TYPE 1, C3469186

Variant: rs80338886 ×

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

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80338886

rs80338886

TFR2

0.010

GeneticVariation

BEFREE

The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years.

2005