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: rs510432
rs510432
0.752 0.280 6 106326155 upstream gene variant T/C snv 0.57
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia
Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs573775
rs573775
0.851 0.320 6 106316991 intron variant G/A snv 0.34
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia
Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs803360
rs803360
1.000 0.040 6 106318254 intron variant G/A;C snv
CUI: C0271907
Disease: Acquired aplastic anemia
Acquired aplastic anemia
Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019