Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225300
rs863225300
NKX2-1 ; SFTA3 ; NKX2-1-AS1
0.010 GeneticVariation BEFREE We describe 3 patients of an Italian family carrying the S145X mutation in the TITF-1 gene with mild motor delay, childhood onset dyskinesias, and subtle cognitive impairment. 20544814

2010