IGF2, insulin like growth factor 2, 3481

N. diseases: 604; N. variants: 19
Source: ALL
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: rs17885785
rs17885785 		0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs17885785
rs17885785 		0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015
dbSNP: rs17885785
rs17885785 		0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs17885785
rs17885785 		0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs17885785
rs17885785 		0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs17885785
rs17885785 		0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs17885785
rs17885785 		0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs17885785
rs17885785 		0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2015 2015
dbSNP: rs17885785
rs17885785 		0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs2585
rs2585 		11 2129214 3 prime UTR variant T/C;G snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs35506085
rs35506085 		11 2144346 intron variant G/A snv 0.17
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs35506085
rs35506085 		11 2144346 intron variant G/A snv 0.17
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs35506085
rs35506085 		11 2144346 intron variant G/A snv 0.17
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs3741205
rs3741205 		11 2148654 non coding transcript exon variant C/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs3741208
rs3741208 		1.000 0.120 11 2148544 non coding transcript exon variant A/G;T snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 1 2007 2007
dbSNP: rs3741210
rs3741210 		11 2148310 non coding transcript exon variant A/G snv 0.30
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs3741210
rs3741210 		11 2148310 non coding transcript exon variant A/G snv 0.30
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs3741211
rs3741211 		0.925 0.080 11 2147880 non coding transcript exon variant A/G snv 0.36
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs3741211
rs3741211 		0.925 0.080 11 2147880 non coding transcript exon variant A/G snv 0.36
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs680
rs680 		0.925 0.080 11 2132404 3 prime UTR variant T/C;G snv 0.78
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs680
rs680 		0.925 0.080 11 2132404 3 prime UTR variant T/C;G snv 0.78
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs7948458
rs7948458 		11 2151600 intron variant A/C snv 0.76
CUI: C0005910
Disease: Body Weight
Body Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs975030738
rs975030738 		11 2135469 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1064794050
rs1064794050 		1.000 0.080 11 2135446 stop gained G/A;C snv
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1114167321
rs1114167321 		1.000 0.080 11 2135365 splice donor variant -/GC delins
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0