EMP2, epithelial membrane protein 2, 2013

N. diseases: 46; N. variants: 5
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: rs11074889
rs11074889 		1.000 0.040 16 10539308 intron variant A/G;T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.800 1.000 1 2010 2010
dbSNP: rs587777482
rs587777482 		1.000 16 10547590 missense variant C/T snv 1.2E-04 7.0E-05
CUI: C4014507
Disease: NEPHROTIC SYNDROME, TYPE 10
NEPHROTIC SYNDROME, TYPE 10 		0.800 1.000 1 2014 2014
dbSNP: rs730882194
rs730882194 		1.000 16 10547597 missense variant G/C snv
CUI: C4014507
Disease: NEPHROTIC SYNDROME, TYPE 10
NEPHROTIC SYNDROME, TYPE 10 		0.800 1.000 1 2014 2014
dbSNP: rs9937170
rs9937170 		16 10531048 3 prime UTR variant T/C snv 0.50
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs587777481
rs587777481 		1.000 16 10538060 stop gained G/A snv 4.0E-06
CUI: C4014507
Disease: NEPHROTIC SYNDROME, TYPE 10
NEPHROTIC SYNDROME, TYPE 10 		0.700 0