rs145536528, SLU7

N. diseases: 3
Disease: Congenital Heart Defects ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
0.010 GeneticVariation BEFREE Consistent with these findings, we identified an individual with microcephaly, short stature, intellectual disability, and heart defects with a de novo c.505C>T variant leading to a p.His169Tyr change in PUF60. 24140112 2013