Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1296969984
rs1296969984
CYP11B1 ; GML
0.010 GeneticVariation BEFREE We found that the boy diagnosed with CAH due to 11beta-hydroxylase deficiency carried mutations of A306V (GCC- > GTC) and T318P (ACG- > CCG) in two respective chromosomes. 15807871

2005