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: 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: 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: 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: 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: rs1004446
rs1004446 		0.827 0.240 11 2148913 intron variant G/A snv 0.37
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: 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: rs1004446
rs1004446 		0.827 0.240 11 2148913 intron variant G/A snv 0.37
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
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
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: rs4320932
rs4320932 		0.882 0.120 11 2150371 intron variant T/C snv 0.19
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2011 2013
dbSNP: rs4320932
rs4320932 		0.882 0.120 11 2150371 intron variant T/C snv 0.19
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2011 2013
dbSNP: rs4320932
rs4320932 		0.882 0.120 11 2150371 intron variant T/C snv 0.19
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.020 1.000 2 2011 2013
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: 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: 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