Gene: TERT ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039438
rs886039438
TERT
0.010 GeneticVariation BEFREE The consanguineous, heterozygous p.T567M parents exhibited telomere lengths around the first percentile and no evidence of a DC phenotype. 23538340

2013
dbSNP: rs199701877
rs199701877
TERT
0.010 GeneticVariation BEFREE Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation. 18252230

2008