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: 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: 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: rs802791
rs802791
0.851 0.160 6 106121395 intron variant T/C snv 0.75
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs9373839
rs9373839
0.882 0.080 6 106207742 intron variant T/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 2017 2017