ATG5, autophagy related 5, 9474

N. diseases: 282; N. variants: 36
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: rs548234
rs548234
0.763 0.360 6 106120159 intron variant C/T snv 0.76
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.830 1.000 4 2009 2017
dbSNP: rs6568431
rs6568431
0.790 0.320 6 106140931 intron variant A/C snv 0.61
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 5 2008 2017
dbSNP: rs9372120
rs9372120
0.851 0.280 6 106219660 intron variant T/G snv 0.16
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 2 2014 2019
dbSNP: rs3827644
rs3827644
0.925 0.080 6 106237320 intron variant G/C snv 0.15
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.800 1.000 1 2013 2013
dbSNP: rs6911490
rs6911490
1.000 0.040 6 106074152 intron variant T/C snv 0.86
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs573775
rs573775
0.851 0.320 6 106316991 intron variant G/A snv 0.34
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.720 1.000 3 2008 2018
dbSNP: rs2299864
rs2299864
1.000 0.080 6 106220119 intron variant C/T snv 0.15
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs28701841
rs28701841
0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs28701841
rs28701841
0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs28701841
rs28701841
0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs28701841
rs28701841
0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs28701841
rs28701841
0.827 0.120 6 106082455 intron variant G/A snv 7.6E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3804333
rs3804333
6 106279340 intron variant C/A;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs3827644
rs3827644
0.925 0.080 6 106237320 intron variant G/C snv 0.15
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4134466
rs4134466
1.000 0.040 6 106129493 intron variant A/G snv 0.70
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs538557
rs538557
1.000 0.080 6 106236001 intron variant T/C snv 4.3E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs548234
rs548234
0.763 0.360 6 106120159 intron variant C/T snv 0.76
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs548234
rs548234
0.763 0.360 6 106120159 intron variant C/T snv 0.76
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs548234
rs548234
0.763 0.360 6 106120159 intron variant C/T snv 0.76
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs633724
rs633724
1.000 0.040 6 106286165 intron variant C/T snv 0.42
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6568431
rs6568431
0.790 0.320 6 106140931 intron variant A/C snv 0.61
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6568431
rs6568431
0.790 0.320 6 106140931 intron variant A/C snv 0.61
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs802791
rs802791
0.851 0.160 6 106121395 intron variant T/C snv 0.75
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs802791
rs802791
0.851 0.160 6 106121395 intron variant T/C snv 0.75
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs802791
rs802791
0.851 0.160 6 106121395 intron variant T/C snv 0.75
CUI: C0027121
Disease: Myositis
Myositis
Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019