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: rs33958176
rs33958176 		1.000 0.120 15 98911384 missense variant G/A snv 1.6E-03 1.7E-03
CUI: C0013336
Disease: Dwarfism
Dwarfism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2229765
rs2229765 		0.807 0.280 15 98934996 synonymous variant G/A snv 0.40 0.39
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2229765
rs2229765 		0.807 0.280 15 98934996 synonymous variant G/A snv 0.40 0.39
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs2684761
rs2684761 		15 98821141 intron variant A/G snv 0.47
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
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: rs2872060
rs2872060 		1.000 0.040 15 98956264 intron variant G/A;C;T snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2011 2011
dbSNP: rs7166348
rs7166348 		1.000 0.080 15 98704566 intron variant G/A;T snv 0.21
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
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: 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: rs2229765
rs2229765 		0.807 0.280 15 98934996 synonymous variant G/A snv 0.40 0.39
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4966014
rs4966014 		0.882 0.200 15 98704789 intron variant C/G;T snv
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2013 2013
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: 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: 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: 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
dbSNP: rs2016347
rs2016347 		0.790 0.160 15 98960571 3 prime UTR variant G/A;T snv
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2229765
rs2229765 		0.807 0.280 15 98934996 synonymous variant G/A snv 0.40 0.39
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014