Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76397662
rs76397662
RET
0.700 GeneticVariation UNIPROT An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. 20208042

2010
dbSNP: rs76397662
rs76397662
RET
0.700 GeneticVariation UNIPROT Molecular analysis of congenital central hypoventilation syndrome. 14566559

2003
dbSNP: rs76397662
rs76397662
RET
0.700 GeneticVariation UNIPROT Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case. 12086152

2002
dbSNP: rs76397662
rs76397662
RET
0.700 GeneticVariation UNIPROT Mutations of the RET-GDNF signaling pathway in Ondine's curse. 9497256

1998