INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans ×
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: rs121913135
rs121913135 		0.882 0.120 19 7125437 missense variant C/A snv
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.800 1.000 17 1988 2017
dbSNP: rs121913138
rs121913138 		1.000 0.120 19 7143072 missense variant C/A snv
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.800 1.000 17 1988 2017
dbSNP: rs121913139
rs121913139 		1.000 0.120 19 7122662 missense variant C/T snv
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.800 1.000 17 1988 2017
dbSNP: rs121913140
rs121913140 		1.000 0.120 19 7119563 stop gained C/G;T snv
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.800 1.000 17 1988 2017
dbSNP: rs121913147
rs121913147 		0.925 0.120 19 7170554 missense variant T/C snv 7.0E-06
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.800 1.000 17 1988 2017
dbSNP: rs121913148
rs121913148 		1.000 0.120 19 7125482 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.800 1.000 17 1988 2017
dbSNP: rs121913154
rs121913154 		1.000 0.120 19 7122658 missense variant G/A;T snv
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.800 0
dbSNP: rs121913156
rs121913156 		0.925 0.120 19 7120677 missense variant C/T snv 4.0E-06
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.800 0
dbSNP: rs121913142
rs121913142 		0.925 0.120 19 7172333 missense variant A/C snv
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 17 1988 2017
dbSNP: rs1295645322
rs1295645322 		1.000 0.120 19 7120665 missense variant G/A snv 7.0E-06
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 17 1988 2017
dbSNP: rs52800171
rs52800171 		1.000 0.120 19 7120620 missense variant C/A snv
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 17 1988 2017
dbSNP: rs52826008
rs52826008 		1.000 0.120 19 7117072 missense variant C/G;T snv 1.2E-05; 3.5E-04
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 1.000 17 1988 2017
dbSNP: rs1135401741
rs1135401741 		1.000 0.120 19 7125381 missense variant C/T snv 4.0E-06
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1135401742
rs1135401742 		1.000 0.120 19 7170555 missense variant T/C snv
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121913144
rs121913144 		0.925 0.200 19 7125462 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121913146
rs121913146 		1.000 0.120 19 7267518 stop gained C/T snv
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1329693158
rs1329693158 		0.925 0.120 19 7184454 missense variant C/T snv 4.0E-06
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs938519025
rs938519025 		1.000 0.120 19 7267498 missense variant C/A;T snv
CUI: C0342278
Disease: Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.700 0