rs770899419, TBC1D24

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coffin-Siris syndrome
CUI: C0265338
Disease: Coffin-Siris syndrome
0.010 GeneticVariation BEFREE Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. 25169651 2014