Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045061
rs797045061
PAFAH1B1
T 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs797045061
rs797045061
PAFAH1B1
T 0.700 CausalMutation CLINVAR LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity. 19667223

2009