CD28, CD28 molecule, 940

N. diseases: 364; N. variants: 11
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: rs3116494
rs3116494 		0.882 0.120 2 203727298 intron variant G/A snv 0.76
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3116494
rs3116494 		0.882 0.120 2 203727298 intron variant G/A snv 0.76
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs45620941
rs45620941 		1.000 0.080 2 203735734 3 prime UTR variant G/T snv 0.14
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4675360
rs4675360 		2 203719733 intron variant A/T snv 7.0E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs55686954
rs55686954 		1.000 0.120 2 203721792 intron variant G/A snv 4.8E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs55730955
rs55730955 		1.000 0.040 2 203721233 intron variant T/A snv 8.1E-02
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3116496
rs3116496 		0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2014 2019
dbSNP: rs3116496
rs3116496 		0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2012 2019
dbSNP: rs3116496
rs3116496 		0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2012 2019
dbSNP: rs3116496
rs3116496 		0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2014 2019
dbSNP: rs1033252267
rs1033252267 		0.882 0.200 2 203729681 missense variant G/T snv
CUI: C0038539
Disease: Empyema, Subdural
Empyema, Subdural 		Pathological Conditions, Signs and Symptoms; Infections; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1033252267
rs1033252267 		0.882 0.200 2 203729681 missense variant G/T snv
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1033252267
rs1033252267 		0.882 0.200 2 203729681 missense variant G/T snv
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		Infections 0.010 1.000 1 2010 2010
dbSNP: rs200751829
rs200751829 		1.000 0.080 2 203734847 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C0025221
Disease: Meleda Disease
Meleda Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs201909740
rs201909740 		1.000 0.040 2 203734889 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs201909740
rs201909740 		1.000 0.040 2 203734889 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2140148
rs2140148 		1.000 0.120 2 203707417 intron variant A/C;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3116494
rs3116494 		0.882 0.120 2 203727298 intron variant G/A snv 0.76
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3116494
rs3116494 		0.882 0.120 2 203727298 intron variant G/A snv 0.76
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3116496
rs3116496 		0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3116496
rs3116496 		0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3116496
rs3116496 		0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs3116496
rs3116496 		0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2018 2018
dbSNP: rs3116496
rs3116496 		0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs3116496
rs3116496 		0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019