INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Rabson-Mendenhall 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: 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: 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: rs121913145
rs121913145 		0.925 0.160 19 7184583 missense variant T/C snv 8.0E-06 2.1E-05
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 1.000 7 1990 2017
dbSNP: rs764221583
rs764221583 		1.000 0.160 19 7172402 missense variant C/T snv 4.0E-06 1.4E-05
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 1.000 7 1990 2017
dbSNP: rs781007453
rs781007453 		0.925 0.160 19 7184524 missense variant G/A;C snv 8.0E-06; 4.0E-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 1.000 7 1990 2017
dbSNP: rs887190835
rs887190835 		1.000 0.160 19 7141726 missense variant T/C snv 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 1.000 7 1990 2017
dbSNP: rs886037750
rs886037750 		1.000 0.160 19 7267603 missense variant C/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 0.700 1.000 1 2016 2016
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: 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: rs1229730671
rs1229730671 		0.925 0.160 19 7122893 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 0.010 1.000 1 2018 2018