IGF1R, insulin like growth factor 1 receptor, 3480

N. diseases: 422; N. variants: 24
Source: BEFREE ×
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: rs2016347
rs2016347 		0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2017 2019
dbSNP: rs2016347
rs2016347 		0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2017 2019
dbSNP: rs2016347
rs2016347 		0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.020 1.000 2 2014 2017
dbSNP: rs11247361
rs11247361 		1.000 0.080 15 98664163 intron variant C/G;T snv 0.29
CUI: C0410632
Disease: Schmorl's nodes
Schmorl's nodes 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11635251
rs11635251 		0.925 0.080 15 98937442 intron variant A/G snv 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11635251
rs11635251 		0.925 0.080 15 98937442 intron variant A/G snv 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12439557
rs12439557 		0.925 0.080 15 98771553 intron variant T/C snv 0.74
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12439557
rs12439557 		0.925 0.080 15 98771553 intron variant T/C snv 0.74
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1253103806
rs1253103806 		1.000 0.040 15 98891384 missense variant G/A snv 4.0E-06
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs1253103806
rs1253103806 		1.000 0.040 15 98891384 missense variant G/A snv 4.0E-06
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs1253103806
rs1253103806 		1.000 0.040 15 98891384 missense variant G/A snv 4.0E-06
CUI: C0878787
Disease: Growth failure
Growth failure 		0.010 1.000 1 2012 2012
dbSNP: rs12916884
rs12916884 		0.925 0.080 15 98944659 intron variant G/T snv 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12916884
rs12916884 		0.925 0.080 15 98944659 intron variant G/T snv 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs13379905
rs13379905 		1.000 0.040 15 98649254 5 prime UTR variant C/A;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs13379905
rs13379905 		1.000 0.040 15 98649254 5 prime UTR variant C/A;T snv
CUI: C1696708
Disease: Prehypertension
Prehypertension 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs148662051
rs148662051 		1.000 0.080 15 98899591 missense variant G/A;T snv 3.2E-05; 4.0E-06
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1815009
rs1815009 		0.925 0.080 15 98961442 3 prime UTR variant C/T snv 0.65
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1815009
rs1815009 		0.925 0.080 15 98961442 3 prime UTR variant C/T snv 0.65
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1815009
rs1815009 		0.925 0.080 15 98961442 3 prime UTR variant C/T snv 0.65
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs187980012
rs187980012 		15 98908819 missense variant G/A;T snv 2.0E-05; 8.0E-06
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs2002880
rs2002880 		1.000 0.080 15 98960516 3 prime UTR variant G/A snv 3.6E-03
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2002880
rs2002880 		1.000 0.080 15 98960516 3 prime UTR variant G/A snv 3.6E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2016347
rs2016347 		0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		0.010 1.000 1 2014 2014
dbSNP: rs2016347
rs2016347 		0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs2016347
rs2016347 		0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		0.010 1.000 1 2014 2014