IFNGR2, interferon gamma receptor 2, 3460

N. diseases: 71; N. variants: 13
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: rs2284553
rs2284553 		0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 4 2012 2017
dbSNP: rs74315444
rs74315444 		1.000 21 33426974 missense variant C/A snv
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28 		0.800 1.000 4 2000 2013
dbSNP: rs2834215
rs2834215 		1.000 0.040 21 33424579 intron variant A/G snv 0.45
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs2284553
rs2284553 		0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs2284553
rs2284553 		0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2284553
rs2284553 		0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2284553
rs2284553 		0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2284553
rs2284553 		0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs9808753
rs9808753 		0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs9808753
rs9808753 		0.701 0.400 21 33415005 missense variant A/G snv 0.20 0.18
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1196094724
rs1196094724 		1.000 21 33426892 missense variant G/A snv 7.0E-06
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28 		0.700 0
dbSNP: rs1243506079
rs1243506079 		1.000 21 33421613 missense variant C/T snv 7.0E-06
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28 		0.700 0
dbSNP: rs398122890
rs398122890 		1.000 21 33421652 inframe insertion -/ACAATG delins
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28 		0.700 0
dbSNP: rs587776822
rs587776822 		1.000 21 33421549 frameshift variant AG/- delins
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28 		0.700 0
dbSNP: rs587776823
rs587776823 		1.000 21 33432275 inframe deletion TAACATCTTTAGAGTCGGGCATTTAAG/- delins
CUI: C4013947
Disease: IMMUNODEFICIENCY 28
IMMUNODEFICIENCY 28 		0.700 0
dbSNP: rs1059293
rs1059293 		0.882 0.080 21 33437386 3 prime UTR variant C/T snv 0.59
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1059293
rs1059293 		0.882 0.080 21 33437386 3 prime UTR variant C/T snv 0.59
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1059293
rs1059293 		0.882 0.080 21 33437386 3 prime UTR variant C/T snv 0.59
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		0.010 1.000 1 2014 2014
dbSNP: rs1355972653
rs1355972653 		0.882 0.120 21 33415009 synonymous variant G/A snv 4.0E-06 7.0E-06
CUI: C0036631
Disease: Seminoma
Seminoma 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1355972653
rs1355972653 		0.882 0.120 21 33415009 synonymous variant G/A snv 4.0E-06 7.0E-06
CUI: C1335059
Disease: testicular nonseminoma
testicular nonseminoma 		0.010 1.000 1 2007 2007
dbSNP: rs1355972653
rs1355972653 		0.882 0.120 21 33415009 synonymous variant G/A snv 4.0E-06 7.0E-06
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2012075
rs2012075 		1.000 0.080 21 33424455 intron variant C/G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2284553
rs2284553 		0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs2284553
rs2284553 		0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0042749
Disease: Viremia
Viremia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2011 2011
dbSNP: rs2284553
rs2284553 		0.776 0.240 21 33404389 intron variant A/G snv 0.69
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 < 0.001 1 2014 2014