Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients. 10733238

2000
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. 2365819

1990
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT An arginine to cysteine(252) mutation in insulin receptors from a patient with severe insulin resistance inhibits receptor internalisation but preserves signalling events. 12107746

2002
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. 8288049

1994
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance. 2168397

1990
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients. 11260230

2001
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. 12970295

2003
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. 2544998

1989
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance. 9175790

1997
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing. 3283938

1988
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. 2002058

1991
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Molecular scanning of the insulin receptor gene in syndromes of insulin resistance. 8314008

1994
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms. 1563582

1992
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor. 1963473

1990
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Antibodies to the extracellular receptor domain restore the hormone-insensitive kinase and conformation of the mutant insulin receptor valine 382. 8388389

1993
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Ala1048-->Asp mutation in the kinase domain of insulin receptor causes defective kinase activity and insulin resistance. 8243830

1993
dbSNP: rs121913135
rs121913135
INSR
0.800 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322

2017
dbSNP: rs121913138
rs121913138
INSR
0.800 GeneticVariation UNIPROT Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. 2002058

1991
dbSNP: rs121913138
rs121913138
INSR
0.800 GeneticVariation UNIPROT Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor. 1963473

1990
dbSNP: rs121913138
rs121913138
INSR
0.800 GeneticVariation UNIPROT Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. 12970295

2003
dbSNP: rs121913138
rs121913138
INSR
0.800 GeneticVariation UNIPROT A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance. 2168397

1990
dbSNP: rs121913138
rs121913138
INSR
0.800 GeneticVariation UNIPROT Antibodies to the extracellular receptor domain restore the hormone-insensitive kinase and conformation of the mutant insulin receptor valine 382. 8388389

1993
dbSNP: rs121913138
rs121913138
INSR
0.800 GeneticVariation UNIPROT Identification of novel C253Y missense and Y864X nonsense mutations in the insulin receptor gene in type A insulin-resistant patients. 11260230

2001
dbSNP: rs121913138
rs121913138
INSR
0.800 GeneticVariation UNIPROT Detection of mutations in the insulin receptor gene in patients with insulin resistance by analysis of single-stranded conformational polymorphisms. 1563582

1992
dbSNP: rs121913138
rs121913138
INSR
0.800 GeneticVariation UNIPROT Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. 8288049

1994