Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909175
rs121909175
SLC5A5
0.010 GeneticVariation BEFREE While the homozygous mutant NIS-272X causes congenital hypothyroidism, expression of one normal allele in the heterozygote (C272X) is sufficient to maintain active thyroidal I- uptake and function. 9388506

1997