Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370761964
rs370761964
OTX2
0.800 GeneticVariation UNIPROT A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. 22715480

2012
dbSNP: rs370761964
rs370761964
OTX2
0.800 GeneticVariation UNIPROT A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 18728160

2008
dbSNP: rs370761964
rs370761964
OTX2
C 0.800 CausalMutation CLINVAR

dbSNP: rs199761861
rs199761861
OTX2
0.700 GeneticVariation UNIPROT A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. 22715480

2012
dbSNP: rs199761861
rs199761861
OTX2
0.700 GeneticVariation UNIPROT A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. 18728160

2008