DisGeNET - a database of gene-disease associations

Idiopathic hypogonadotropic hypogonadism, C0342384

Variant: rs144292455 ×

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:

rs144292455

rs144292455

TACR3

0.010

GeneticVariation

BEFREE

The known p.G18D, p.L58L, and p.W275* variants were identified in three unrelated males with normosmic IHH.

2012