HNF1A, HNF1 homeobox A, 6927

N. diseases: 292; N. variants: 105
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) ×
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
CUI: C2675866
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137853238
rs137853238 		0.807 0.200 12 120994265 missense variant G/A snv
CUI: C2675866
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs137853239
rs137853239 		1.000 0.120 12 120999606 missense variant C/G;T snv 4.2E-06; 1.7E-05
CUI: C2675866
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) 		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
CUI: C2675866
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1566092470
rs1566092470 		1.000 0.120 12 120978906 frameshift variant G/- delins
CUI: C2675866
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) 		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
CUI: C2675866
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) 		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
CUI: C2675866
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 0