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: rs2059807
rs2059807
0.851 0.200 19 7166098 intron variant A/G;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.830 0.500 4 2011 2020
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: rs121913143
rs121913143
1.000 0.160 19 7267871 missense variant G/T 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 0.810 1.000 7 1990 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: rs121913135
rs121913135
0.882 0.120 19 7125437 missense variant C/A snv
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
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
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
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
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
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: rs121913150
rs121913150
1.000 0.080 19 7120707 missense variant C/T snv 8.0E-06 7.0E-06
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 5 1992 2013
dbSNP: rs7248104
rs7248104
19 7224420 intron variant G/A snv 0.38
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.800 1.000 3 2013 2018
dbSNP: rs4804416
rs4804416
19 7223837 intron variant T/G snv 0.37
Thyroid stimulating hormone measurement
0.800 1.000 1 2013 2013
dbSNP: rs121913154
rs121913154
1.000 0.120 19 7122658 missense variant G/A;T snv
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
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.800 0
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: rs111993466
rs111993466
1.000 0.160 19 7122671 missense variant G/A 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 0.710 1.000 1 1999 1999
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