Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113994198
rs113994198
PAFAH1B1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. 14581661

2003
dbSNP: rs113994198
rs113994198
PAFAH1B1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. 11502906

2001
dbSNP: rs113994198
rs113994198
PAFAH1B1
CUI: C0036572
Disease: Seizures
Seizures 		G 0.700 CausalMutation CLINVAR Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. 10441340

1999