Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1249080185
rs1249080185
EPHB2
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