DisGeNET - a database of gene-disease associations

Hereditary hemochromatosis, C0392514

Variant: rs1397742363 ×

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:

rs1397742363

rs1397742363

MAP3K8

0.010

GeneticVariation

BEFREE

The new human HFE exon 7 region has been screened in non-C282Y HH patients in search for new putative mutations.

2001