Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907208
rs387907208
ABCC9
0.800 GeneticVariation UNIPROT Differential mechanisms of Cantú syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel. 26621776

2015
dbSNP: rs387907208
rs387907208
ABCC9
0.800 GeneticVariation UNIPROT Cantú syndrome is caused by mutations in ABCC9. 22608503

2012
dbSNP: rs387907208
rs387907208
ABCC9
0.800 GeneticVariation UNIPROT Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116

2012
dbSNP: rs387907208
rs387907208
ABCC9
A 0.800 CausalMutation CLINVAR