DDX39B, DExD-box helicase 39B, 7919

N. diseases: 50; N. variants: 23
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: rs2734583
rs2734583 		0.882 0.240 6 31537703 intron variant A/G snv 0.10
CUI: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome 		Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs2071596
rs2071596 		1.000 0.120 6 31538914 missense variant G/A snv 0.20 0.22
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs2844509
rs2844509 		0.882 0.160 6 31543147 intron variant A/G snv 0.23
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs2844509
rs2844509 		0.882 0.160 6 31543147 intron variant A/G snv 0.23
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs2844509
rs2844509 		0.882 0.160 6 31543147 intron variant A/G snv 0.23
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 2 2009 2010
dbSNP: rs2844509
rs2844509 		0.882 0.160 6 31543147 intron variant A/G snv 0.23
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 2 2009 2010
dbSNP: rs2844509
rs2844509 		0.882 0.160 6 31543147 intron variant A/G snv 0.23
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs9267487
rs9267487 		1.000 6 31543573 intron variant T/C snv 5.5E-02
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.700 1.000 2 2009 2010
dbSNP: rs9267487
rs9267487 		1.000 6 31543573 intron variant T/C snv 5.5E-02
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs9267487
rs9267487 		1.000 6 31543573 intron variant T/C snv 5.5E-02
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.700 1.000 2 2009 2010
dbSNP: rs9267487
rs9267487 		1.000 6 31543573 intron variant T/C snv 5.5E-02
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.700 1.000 2 2009 2010
dbSNP: rs114050967
rs114050967 		1.000 0.080 6 31537703 intron variant A/G snv
CUI: C0027121
Disease: Myositis
Myositis 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2071593
rs2071593 		6 31545022 3 prime UTR variant G/A snv 8.1E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2071595
rs2071595 		6 31539285 intron variant G/A;C;T snv 4.1E-06; 9.9E-02; 4.1E-06
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2075580
rs2075580 		1.000 0.120 6 31536198 intron variant G/A;C snv
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2239705
rs2239705 		1.000 0.120 6 31545625 intron variant G/A snv 0.18 0.16
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs2239709
rs2239709 		6 31539670 intron variant C/T snv 8.3E-02
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2251824
rs2251824 		1.000 0.120 6 31544080 intron variant G/A snv 0.15
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2269476
rs2269476 		6 31540161 intron variant G/A snv 0.20
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs2516478
rs2516478 		1.000 0.120 6 31530960 intron variant G/A snv 0.18 0.16
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2523503
rs2523503 		1.000 0.120 6 31545782 non coding transcript exon variant C/A snv 0.15
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2523505
rs2523505 		1.000 0.040 6 31542225 5 prime UTR variant C/G snv 7.6E-02
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs2523506
rs2523506 		1.000 0.120 6 31542190 5 prime UTR variant G/T snv 0.17 0.15
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2523512
rs2523512 		1.000 0.120 6 31539024 intron variant G/A snv 0.18 0.16
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2734583
rs2734583 		0.882 0.240 6 31537703 intron variant A/G snv 0.10
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases 0.700 1.000 1 2013 2013