Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886037936
rs886037936
EML1
1.000 14 99897194 missense variant A/G snv
CUI: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		0.800 1.000 2 2014 2017