Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs8192466
rs8192466
BDNF ; BDNF-AS
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.700 GeneticVariation UNIPROT An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. 20208042

2010
dbSNP: rs8192466
rs8192466
BDNF ; BDNF-AS
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		0.700 GeneticVariation UNIPROT Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation. 11840487

2002