INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Donohue Syndrome ×
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: rs121913145
rs121913145 		0.925 0.160 19 7184583 missense variant T/C snv 8.0E-06 2.1E-05
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.810 1.000 20 1988 2017
dbSNP: rs121913158
rs121913158 		1.000 0.160 19 7170704 missense variant C/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 0.810 1.000 20 1988 2017
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
dbSNP: rs121913153
rs121913153 		1.000 0.160 19 7267659 missense variant C/A;G;T 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
dbSNP: rs121913159
rs121913159 		1.000 0.160 19 7267559 missense variant G/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 0.800 1.000 20 1988 2017
dbSNP: rs1555689937
rs1555689937 		1.000 0.160 19 7267830 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 0.800 1.000 20 1988 2017
dbSNP: rs267607184
rs267607184 		1.000 0.160 19 7172381 missense variant C/T snv
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 20 1988 2017
dbSNP: rs52836744
rs52836744 		1.000 0.160 19 7267825 missense variant C/T snv
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.800 1.000 20 1988 2017
dbSNP: rs1229730671
rs1229730671 		0.925 0.160 19 7122893 missense variant G/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 0.710 1.000 20 1988 2017
dbSNP: rs121913160
rs121913160 		1.000 0.160 19 7170648 missense variant T/C snv
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.710 1.000 1 2003 2003
dbSNP: rs387906538
rs387906538 		1.000 0.160 19 7132230 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 0.710 1.000 1 2016 2016
dbSNP: rs1555735951
rs1555735951 		1.000 0.160 19 7126585 frameshift variant ATCACTGGCA/CTTCC delins
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 1.000 1 2016 2016
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: 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: 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: 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: 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: rs1135401737
rs1135401737 		1.000 0.160 19 7163092 missense variant C/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 0.010 1.000 1 2017 2017
dbSNP: rs1419256494
rs1419256494 		0.882 0.280 19 7142938 missense variant A/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 0.010 1.000 1 2013 2013
dbSNP: rs142391704
rs142391704 		1.000 0.160 19 7152840 missense variant G/T snv 1.1E-04 9.1E-05
CUI: C0265344
Disease: Donohue Syndrome
Donohue Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 1996 1996
dbSNP: rs387906539
rs387906539 		0.925 0.280 19 7184592 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 0.010 1.000 1 1991 1991