EMID1, EMI domain containing 1, 129080

N. diseases: 9; N. variants: 6
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: rs132390
rs132390 		0.925 0.080 22 29225488 intron variant C/T snv 0.96
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 3 2013 2017
dbSNP: rs9608740
rs9608740 		22 29224336 intron variant A/C;G;T snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 3 2018 2018
dbSNP: rs12158292
rs12158292 		22 29237245 intron variant T/C snv 0.51
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs132390
rs132390 		0.925 0.080 22 29225488 intron variant C/T snv 0.96
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1997719
rs1997719 		22 29232752 non coding transcript exon variant C/A;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs5752882
rs5752882 		22 29237837 intron variant C/T snv 0.51
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs62227043
rs62227043 		22 29237946 intron variant G/A;T snv
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs62227043
rs62227043 		22 29237946 intron variant G/A;T snv
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs9608740
rs9608740 		22 29224336 intron variant A/C;G;T snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs9608740
rs9608740 		22 29224336 intron variant A/C;G;T snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019