Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764221583
rs764221583
INSR
0.700 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322

2017
dbSNP: rs764221583
rs764221583
INSR
0.700 GeneticVariation UNIPROT Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. 17201797

2007
dbSNP: rs764221583
rs764221583
INSR
0.700 GeneticVariation UNIPROT Genotype-phenotype correlation in inherited severe insulin resistance. 12023989

2002
dbSNP: rs764221583
rs764221583
INSR
0.700 GeneticVariation UNIPROT Progressive decline in insulin levels in Rabson-Mendenhall syndrome. 10443650

1999
dbSNP: rs764221583
rs764221583
INSR
0.700 GeneticVariation UNIPROT Molecular scanning of the insulin receptor gene in syndromes of insulin resistance. 8314008

1994
dbSNP: rs764221583
rs764221583
INSR
0.700 GeneticVariation UNIPROT Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. 2365819

1990
dbSNP: rs764221583
rs764221583
INSR
0.700 GeneticVariation UNIPROT Substitution of lysine for asparagine at position 15 in the alpha-subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding. 2121734

1990