ELMO1, engulfment and cell motility 1, 9844

N. diseases: 72; N. variants: 31
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: rs10951509
rs10951509 		1.000 0.120 7 37173878 intron variant G/A;C snv
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2724013
rs2724013 		1.000 0.040 7 37349706 intron variant G/A;T snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs60600003
rs60600003 		0.827 0.120 7 37342861 intron variant T/C;G snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs60600003
rs60600003 		0.827 0.120 7 37342861 intron variant T/C;G snv
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs60600003
rs60600003 		0.827 0.120 7 37342861 intron variant T/C;G snv
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs60600003
rs60600003 		0.827 0.120 7 37342861 intron variant T/C;G snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs60600003
rs60600003 		0.827 0.120 7 37342861 intron variant T/C;G snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs60600003
rs60600003 		0.827 0.120 7 37342861 intron variant T/C;G snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs60600003
rs60600003 		0.827 0.120 7 37342861 intron variant T/C;G snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs77778931
rs77778931 		1.000 0.080 7 37365375 intron variant C/A;T snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2392492
rs2392492 		1.000 0.080 7 37325592 intron variant G/A snv 3.8E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.800 1.000 1 2014 2014
dbSNP: rs79758729
rs79758729 		1.000 0.080 7 37378851 intron variant A/G snv 7.9E-02
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 2 2011 2012
dbSNP: rs77972791
rs77972791 		7 37364044 intron variant A/G snv 8.2E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs77972791
rs77972791 		7 37364044 intron variant A/G snv 8.2E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs16879644
rs16879644 		1.000 0.040 7 37348940 intron variant T/C snv 8.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17170851
rs17170851 		1.000 0.080 7 37047627 intron variant A/T snv 8.6E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs74830391
rs74830391 		0.925 0.200 7 37387686 intron variant C/T snv 9.7E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs74830391
rs74830391 		0.925 0.200 7 37387686 intron variant C/T snv 9.7E-02
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs75351767
rs75351767 		1.000 0.120 7 37387748 intron variant T/A;C snv 9.7E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs11984075
rs11984075 		7 37397251 intron variant A/G snv 0.14
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs11984075
rs11984075 		7 37397251 intron variant A/G snv 0.14
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs6974491
rs6974491 		0.807 0.120 7 37334906 intron variant G/A snv 0.14
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs6974491
rs6974491 		0.807 0.120 7 37334906 intron variant G/A snv 0.14
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6974491
rs6974491 		0.807 0.120 7 37334906 intron variant G/A snv 0.14
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs6974491
rs6974491 		0.807 0.120 7 37334906 intron variant G/A snv 0.14
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2012 2012