Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768165720
rs768165720
HESX1
0.010 GeneticVariation BEFREE A mutation analysis identified homozygous p.R109Q mutations in HESX1 in a patient with CPHD. 28332357

2017