EML1, EMAP like 1, 2009

N. diseases: 31; N. variants: 7
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: rs10131519
rs10131519 		1.000 0.040 14 99892957 intron variant T/C snv 0.29
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11160546
rs11160546 		14 99767016 intron variant C/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs35426224
rs35426224 		1.000 0.040 14 99783354 intron variant G/A snv 5.2E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs35426224
rs35426224 		1.000 0.040 14 99783354 intron variant G/A snv 5.2E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
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