rs775277800, RTTN

N. diseases: 4
Disease: Microcephaly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Microcephaly
CUI: C0025958
Disease: Microcephaly
0.010 GeneticVariation BEFREE Interestingly, the naturally occurring microcephaly-associated mutant, RTTN (A578P), shows a low affinity for STIL binding and blocks centriole assembly. 28811500 2017