INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121913139
rs121913139
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342278
Disease:
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121913148
rs121913148
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342278
Disease:
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121913150
rs121913150
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121913154
rs121913154
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342278
Disease:
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121913156
rs121913156
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342278
Disease:
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		T 0.800 CausalMutation CLINVAR
dbSNP: rs267607184
rs267607184
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs4804416
rs4804416
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0202230
Disease:
Thyroid stimulating hormone measurement 		T 0.800 GeneticVariation GWASDB A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 23408906 2013
dbSNP: rs4804416
rs4804416
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0202230
Disease:
Thyroid stimulating hormone measurement 		T 0.800 GeneticVariation GWASCAT A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 23408906 2013
dbSNP: rs52836744
rs52836744
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs10427021
rs10427021
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs10427021
rs10427021
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs121913139
rs121913139
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0021655
Disease:
Insulin Resistance 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121913146
rs121913146
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0342278
Disease:
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121913156
rs121913156
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C1864952
Disease:
Hyperinsulinemic Hypoglycemia, Familial, 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121913157
rs121913157
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0021655
Disease:
Insulin Resistance 		T 0.700 CausalMutation CLINVAR
dbSNP: rs4247374
rs4247374
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. 27618452 2016
dbSNP: rs4247374
rs4247374
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0428883
Disease:
Diastolic blood pressure 		T 0.700 GeneticVariation GWASCAT Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney. 28739976 2017
dbSNP: rs4247374
rs4247374
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. 27618452 2016
dbSNP: rs4804416
rs4804416
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0202236
Disease:
Triglycerides measurement 		T 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs4804416
rs4804416
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0441683
Disease:
Hormone measurement 		T 0.700 GeneticVariation GWASCAT A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. 23408906 2013
dbSNP: rs56149994
rs56149994
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0392885
Disease:
High density lipoprotein measurement 		T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs75392157
rs75392157
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs886037750
rs886037750
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		T 0.700 CausalMutation CLINVAR A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome. 26691667 2016
dbSNP: rs2059807
rs2059807
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		G 0.830 GeneticVariation GWASCAT Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 22885925 2012