Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037936
rs886037936
EML1
CUI: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		0.800 GeneticVariation UNIPROT The genetic landscape of familial congenital hydrocephalus. 28556411

2017
dbSNP: rs886037936
rs886037936
EML1
CUI: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		0.800 GeneticVariation UNIPROT Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human. 24859200

2014