Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852672
rs137852672
ABCC8
0.010 GeneticVariation BEFREE We reported previously that a loss-of-function mutation in SUR1 (V187D) is responsible for CHI of the most severe cases. 11018078

2000