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: 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: 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: 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: rs8032477
rs8032477 		0.851 0.200 15 98711325 intron variant C/A;T snv
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: rs8032477
rs8032477 		0.851 0.200 15 98711325 intron variant C/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28457673
rs28457673 		15 98958173 3 prime UTR variant C/G snv 2.3E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs28457673
rs28457673 		15 98958173 3 prime UTR variant C/G snv 2.3E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
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: rs2654981
rs2654981 		15 98961900 3 prime UTR variant C/G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
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: 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: rs2684788
rs2684788 		0.925 0.080 15 98961208 3 prime UTR variant C/T snv 0.51
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2684788
rs2684788 		0.925 0.080 15 98961208 3 prime UTR variant C/T snv 0.51
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2019 2019
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: 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: rs2229765
rs2229765 		0.807 0.280 15 98934996 synonymous variant G/A snv 0.40 0.39
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
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: 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