Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1043843717
rs1043843717
TPO
0.010 GeneticVariation BEFREE In this report, we presented two children with C</span>H who were born to consanguineous parents and were homozygous carriers of a missense (G319R) TPO mutation, the mutation segregated with the disease status in the families confirming its pathogenicity. 24158420

2014