SLC22A4, solute carrier family 22 member 4, 6583

N. diseases: 90; N. variants: 21
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: rs1050152
rs1050152 		0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0030524
Disease: Paratuberculosis
Paratuberculosis 		Infections; Animal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs3792876
rs3792876 		0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs272893
rs272893 		0.925 0.160 5 132327369 missense variant T/C;G snv 0.58; 4.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3792876
rs3792876 		0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs272888
rs272888 		1.000 0.040 5 132329730 intron variant T/C snv 0.71
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs3792876
rs3792876 		0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02
CUI: C2931133
Disease: Pediatric Crohn's disease
Pediatric Crohn's disease 		Digestive System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1050152
rs1050152 		0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.020 1.000 2 2006 2008
dbSNP: rs1050152
rs1050152 		0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs272893
rs272893 		0.925 0.160 5 132327369 missense variant T/C;G snv 0.58; 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10479002
rs10479002 		5 132335969 synonymous variant C/G snv
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2009 2009
dbSNP: rs12777
rs12777 		5 132335969 synonymous variant C/G snv 3.1E-02 2.8E-02
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2009 2009
dbSNP: rs12777
rs12777 		5 132335969 synonymous variant C/G snv 3.1E-02 2.8E-02
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2009 2009
dbSNP: rs1050152
rs1050152 		0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2010 2010
dbSNP: rs1050152
rs1050152 		0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs272879
rs272879 		0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs272879
rs272879 		0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs272879
rs272879 		0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs272879
rs272879 		0.882 0.040 5 132334853 synonymous variant C/A;G;T snv 4.0E-06; 0.57
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2010 2010
dbSNP: rs1050152
rs1050152 		0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0016169
Disease: pathologic fistula
pathologic fistula 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs270607
rs270607 		5 132313493 intron variant A/G snv 0.69
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2011 2011
dbSNP: rs270607
rs270607 		5 132313493 intron variant A/G snv 0.69
CUI: C1561955
Disease: Fibrinogen, CTCAE
Fibrinogen, CTCAE 		0.700 1.000 1 2011 2011
dbSNP: rs270607
rs270607 		5 132313493 intron variant A/G snv 0.69
CUI: C1325327
Disease: fibrinogen activity
fibrinogen activity 		0.700 1.000 1 2011 2011
dbSNP: rs272889
rs272889 		5 132329685 intron variant A/G snv 0.64
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2011 2011
dbSNP: rs272889
rs272889 		5 132329685 intron variant A/G snv 0.64
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2011 2011
dbSNP: rs3792876
rs3792876 		0.790 0.280 5 132301616 intron variant C/T snv 6.9E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.040 0.500 4 2005 2015