EML1, EMAP like 1, 2009

N. diseases: 31; N. variants: 7
Disease: BAND HETEROTOPIA ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs886037936
rs886037936 		1.000 14 99897194 missense variant A/G snv
CUI: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		0.800 1.000 2 2014 2017
dbSNP: rs886037937
rs886037937 		1.000 14 99894754 missense variant T/C snv
CUI: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		0.800 1.000 2 2014 2017
dbSNP: rs1555404109
rs1555404109 		1.000 14 99914251 stop gained C/T snv
CUI: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		0.700 0
dbSNP: rs886037935
rs886037935 		1.000 14 99878513 stop gained C/A;T snv 8.0E-06
CUI: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		0.700 0