DisGeNET - a database of gene-disease associations

Constitutional delay of growth and puberty, C0342538

Variant: rs17033889 ×

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:

rs17033889

rs17033889

TACR3

0.010

GeneticVariation

BEFREE

The p.A63P variant was identified in a girl with CPP, and p.A449S in a girl with CDGP.

2012