Gene: PAX8 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1173174494
rs1173174494
PAX8 ; PAX8-AS1
0.010 GeneticVariation BEFREE A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals. 27207603

2016
dbSNP: rs368201100
rs368201100
PAX8 ; PAX8-AS1
0.010 GeneticVariation BEFREE Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands. 17980011

2008
dbSNP: rs775083174
rs775083174
PAX8 ; PAX8-AS1
0.010 GeneticVariation BEFREE PAX8 mutations in congenital hypothyroidism due to dysgenetic or orthotopic thyroid glands are rare.PAX8-T225M is probably a rare variant. 17437516

2007
dbSNP: rs104893656
rs104893656
PAX8 ; PAX8-AS1
0.010 GeneticVariation BEFREE A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. 11502839

2001