Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918464
rs121918464
PTPN11
0.010 GeneticVariation BEFREE Targeted pan-neuronal knockin of a <i>Ptpn11</i> allele encoding the active SHP2 E76K mutant resulted in hydrocephalus due to aberrant development of ependymal cells and their cilia. 29559584

2018