Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936416
rs28936416
HESX1
0.020 GeneticVariation BEFREE A previously reported patient homozygous for p.I26T had evolving CPHD and EPP. 27000987

2016
dbSNP: rs28936416
rs28936416
HESX1
0.020 GeneticVariation BEFREE We identified a novel homozygous nonconservative missense mutation (I26T) in the critical Engrailed homology repressor domain (eh1) of HESX1, the first, to our knowledge, to be described in humans, in a girl with evolving combined pituitary hormone deficiency born to consanguineous parents. 14561704

2003