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: 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: 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: rs10770125
rs10770125 		0.882 0.200 11 2147784 missense variant A/G snv 0.49 0.40
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: rs10770125
rs10770125 		0.882 0.200 11 2147784 missense variant A/G snv 0.49 0.40
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10770125
rs10770125 		0.882 0.200 11 2147784 missense variant A/G snv 0.49 0.40
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
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: 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: rs984257990
rs984257990 		0.925 0.080 11 2135495 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs984257990
rs984257990 		0.925 0.080 11 2135495 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs984257990
rs984257990 		0.925 0.080 11 2135495 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
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: 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: rs149483638
rs149483638 		1.000 0.080 11 2140300 splice acceptor variant C/T snv 2.8E-02 1.5E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2017 2017
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: 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: 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: C0010346
Disease: Crohn Disease
Crohn Disease 		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: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal 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: 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