HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
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: rs137853236
rs137853236
0.807 0.280 12 120997504 missense variant C/T snv 1.2E-05
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1555212014
rs1555212014
0.807 0.280 12 120994264 missense variant C/T snv
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587776825
rs587776825
0.827 0.280 12 120994315 frameshift variant C/-;CC;CCC delins
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587780357
rs587780357
1.000 0.120 12 120993601 missense variant G/A snv 8.0E-06
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs754729248
rs754729248
0.807 0.280 12 120996568 missense variant C/A;G;T snv 2.4E-05; 1.9E-04; 3.6E-05
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0