IGF1R, insulin like growth factor 1 receptor, 3480

N. diseases: 422; N. variants: 24
Source: BEFREE ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Pregnancy Hypertension and a Commonly Inherited IGF1R Variant (rs2016347) Reduce Breast Cancer Risk by Enhancing Mammary Gland Involution. 31687025 2019
dbSNP: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Study findings indicate that the T allele of IGF1R variant rs2016347 is associated with a significant reduction in breast cancer risk in women with a history of preeclampsia, most marked for HR+ breast cancer and in women with AFB < 30. 28822014 2017
dbSNP: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Study findings indicate that the T allele of IGF1R variant rs2016347 is associated with a significant reduction in breast cancer risk in women with a history of preeclampsia, most marked for HR+ breast cancer and in women with AFB < 30. 28822014 2017
dbSNP: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0852036
Disease:
Pregnancy associated hypertension
0.020 GeneticVariation BEFREE In a subsample of 1,240 women, there was evidence of modification in the association between PIH and %FGV by specific vascular endothelial growth factor (VEGF) (rs3025039) and insulin growth factor receptor-1 (IGFR1) (rs2016347) gene variants. 24801045 2014
dbSNP: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE Pregnancy Hypertension and a Commonly Inherited IGF1R Variant (rs2016347) Reduce Breast Cancer Risk by Enhancing Mammary Gland Involution. 31687025 2019
dbSNP: rs2016347
rs2016347
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0852036
Disease:
Pregnancy associated hypertension
0.020 GeneticVariation BEFREE In the Marin Women's Study, pregnancy-induced hypertension was shown to interact with the T allele of a functional IGF1R gene variant, rs2016347, to result in lower breast density, as well as decreased breast cancer risk. 28822014 2017
dbSNP: rs11247361
rs11247361
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0410632
Disease:
Schmorl's nodes
0.010 GeneticVariation BEFREE Different genetic associations were found with different phenotypes: disc bulge with three SNPs of CILP; annular tears with rs2249350 of ADAMTS5 and rs11247361 IGF1R; modic changes with VDR and MMP20; Pfirmann grading with three SNPs of MMP20 and Schmorl node with SNPs of CALM1 and FN1 and none with Total End Plate Score.Subgroup analysis based on three age groups and dividing the total population into two groups also completely changed the associations for all the six radiographic parameters. 27513226 2016
dbSNP: rs11635251
rs11635251
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs11635251
rs11635251
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs12439557
rs12439557
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs12439557
rs12439557
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs1253103806
rs1253103806
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0878787
Disease:
Growth failure
0.010 GeneticVariation BEFREE Only the second compound heterozygous IGF1R mutations to be identified, the p.E121K/E234K variant is the cause of intrauterine growth retardation and the most severe postnatal growth failure described to date in a patient with IGF1R defects. 22130793 2012
dbSNP: rs1253103806
rs1253103806
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0015934
Disease:
Fetal Growth Retardation
0.010 GeneticVariation BEFREE Only the second compound heterozygous IGF1R mutations to be identified, the p.E121K/E234K variant is the cause of intrauterine growth retardation and the most severe postnatal growth failure described to date in a patient with IGF1R defects. 22130793 2012
dbSNP: rs1253103806
rs1253103806
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0015544
Disease:
Failure to Thrive
0.010 GeneticVariation BEFREE Only the second compound heterozygous IGF1R mutations to be identified, the p.E121K/E234K variant is the cause of intrauterine growth retardation and the most severe postnatal growth failure described to date in a patient with IGF1R defects. 22130793 2012
dbSNP: rs12916884
rs12916884
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs12916884
rs12916884
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Among 51 IGF1R SNPs, five intron located SNPs (rs8032477, rs7175052, rs12439557, rs11635251 and rs12916884) with homozygous genotype (variant genotype) were associated with decreased risk of breast cancer. 24392142 2014
dbSNP: rs13379905
rs13379905
Entrez Id: 3480;104472848
Gene Symbol: IGF1R;IRAIN
IGF1R;IRAIN
CUI: C1696708
Disease:
Prehypertension
0.010 GeneticVariation BEFREE The association of rs13379905 with prehypertension and hypertension was further replicated in adolescent males (P = 0.005). 29126188 2018
dbSNP: rs13379905
rs13379905
Entrez Id: 3480;104472848
Gene Symbol: IGF1R;IRAIN
IGF1R;IRAIN
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In a follow-up study, rs13379905 in IGF-1R was associated with hype</span>rtension incidence (hazard ratio, HR = 1.24, P = 0.042). 29126188 2018
dbSNP: rs148662051
rs148662051
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0039093
Disease:
Congenital abnormal Synostosis
0.010 GeneticVariation BEFREE Resequencing of the coding regions, splice junction sites, and 5' and 3' untranslated regions of 27 candidate genes in 186 cases of isolated non-syndromic single suture synostosis revealed three novel and two rare sequence variants (R406H, R595H, N857S, P190S, M446V) in insulin-like growth factor I receptor (IGF1R) that are enriched relative to control samples. 21204214 2011
dbSNP: rs1815009
rs1815009
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE The results of the present study revealed an association between rs1815009, rs2684788 and PCa risk, which involves altered miRNA regulation and contributes to cancer susceptibility. 30365147 2019
dbSNP: rs1815009
rs1815009
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE A case-control study indicated that rs1815009 and rs2654981 in IGF-1R were significantly associated with hypertension, with odds ratios of 0.89 (P = 0.009) and 1.19 (P = 0.034), respectively, after adjusting for covariates. 29126188 2018
dbSNP: rs1815009
rs1815009
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE The results of the present study revealed an association between rs1815009, rs2684788 and PCa risk, which involves altered miRNA regulation and contributes to cancer susceptibility. 30365147 2019
dbSNP: rs187980012
rs187980012
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0015934
Disease:
Fetal Growth Retardation
0.010 GeneticVariation BEFREE We identified a family bearing a new heterozygous missense mutation at the L2 domain of IGF-IR (R431L) through an 8-year-old girl and her mother, both born with intrauterine growth retardation. 22309212 2012
dbSNP: rs2002880
rs2002880
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE Significant associations with hypertension incidence (P < 0.05) were observed for rs6219 in individuals <55 years of age and among those with obesity and a hypertensive family history as well as rs2002880 in obese individuals. 29126188 2018
dbSNP: rs2002880
rs2002880
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE Significant associations with hypertension incidence (P < 0.05) were observed for rs6219 in individuals <55 years of age and among those with obesity and a hypertensive family history as well as rs2002880 in obese individuals. 29126188 2018