Gene: ACD ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201441120
rs201441120
ACD ; CARMIL2
0.800 GeneticVariation UNIPROT Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1. 25233904

2014