INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
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: 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: rs121913137
rs121913137 		1.000 0.160 19 7152862 stop gained G/A;C snv 4.0E-06
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121913139
rs121913139 		1.000 0.120 19 7122662 missense variant C/T snv
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121913142
rs121913142 		0.925 0.120 19 7172333 missense variant A/C snv
CUI: C0854110
Disease: Insulin-resistant diabetes mellitus
Insulin-resistant diabetes mellitus 		Nutritional and Metabolic 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: rs121913144
rs121913144 		0.925 0.200 19 7125462 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal 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: rs121913152
rs121913152 		1.000 0.160 19 7267833 missense variant A/G snv
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
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: rs121913155
rs121913155 		1.000 0.160 19 7267555 stop gained T/A snv
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 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: rs121913156
rs121913156 		0.925 0.120 19 7120677 missense variant C/T snv 4.0E-06
CUI: C1864952
Disease: Hyperinsulinemic Hypoglycemia, Familial, 5
Hyperinsulinemic Hypoglycemia, Familial, 5 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121913157
rs121913157 		19 7120739 missense variant C/T snv
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		Nutritional and Metabolic 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: rs1347473020
rs1347473020 		1.000 0.160 19 7267641 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1568426700
rs1568426700 		19 7120678 missense variant G/A snv
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs182552223
rs182552223 		1.000 0.080 19 7141787 missense variant T/C snv 1.2E-04 1.4E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587776819
rs587776819 		1.000 0.160 19 7172436 splice acceptor variant T/C snv
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs587776820
rs587776820 		1.000 0.160 19 7142871 frameshift variant GTCCTGGT/- delins
CUI: C0271695
Disease: Rabson-Mendenhall Syndrome
Rabson-Mendenhall Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs797045624
rs797045624 		1.000 0.040 19 7167966 splice donor variant A/G snv 7.0E-06
CUI: C1864952
Disease: Hyperinsulinemic Hypoglycemia, Familial, 5
Hyperinsulinemic Hypoglycemia, Familial, 5 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs911929963
rs911929963 		1.000 0.160 19 7132224 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal 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
dbSNP: rs121913136
rs121913136 		1.000 0.160 19 7170561 missense variant T/C snv 7.0E-06
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 20 1988 2017
dbSNP: rs121913141
rs121913141 		1.000 0.160 19 7184511 missense variant A/C;G snv 4.0E-06
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 20 1988 2017