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: rs1004446
rs1004446 		0.827 0.240 11 2148913 intron variant G/A snv 0.37
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs17885785
rs17885785 		0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		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: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2015 2015
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: 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: rs869320620
rs869320620 		1.000 11 2135501 stop gained G/A;T snv 4.0E-06
CUI: C4225307
Disease: GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES
GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES 		0.700 0
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
dbSNP: rs17885785
rs17885785 		0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive 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: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
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: 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: rs1004446
rs1004446 		0.827 0.240 11 2148913 intron variant G/A snv 0.37
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1003483
rs1003483 		1.000 0.040 11 2146313 non coding transcript exon variant T/G snv 0.47 0.40
CUI: C0271183
Disease: Severe myopia
Severe myopia 		Eye Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10770125
rs10770125 		0.882 0.200 11 2147784 missense variant A/G snv 0.49 0.40
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17885785
rs17885785 		0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		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: 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: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1004446
rs1004446 		0.827 0.240 11 2148913 intron variant G/A snv 0.37
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011