CAT, catalase, 847

N. diseases: 794; N. variants: 14
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: rs1001179
rs1001179
0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.020 0.500 2 2006 2018
dbSNP: rs1428168076
rs1428168076
1.000 0.120 11 34452152 missense variant A/C snv 8.0E-06 7.0E-06
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs769217
rs769217
0.742 0.440 11 34461361 synonymous variant C/T snv 0.25 0.22
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2006 2006