Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
0.827 0.240 11 2148913 intron variant G/A snv 0.37
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.810 1.000 1 2007 2017
dbSNP: rs4320932
rs4320932
IGF2 ; INS-IGF2
0.882 0.120 11 2150371 intron variant T/C snv 0.19
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 1.000 2 2011 2013
dbSNP: rs4320932
rs4320932
IGF2 ; INS-IGF2
0.882 0.120 11 2150371 intron variant T/C snv 0.19
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.020 1.000 2 2011 2013
dbSNP: rs4320932
rs4320932
IGF2 ; INS-IGF2
0.882 0.120 11 2150371 intron variant T/C snv 0.19
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 1.000 2 2011 2013
dbSNP: rs1003483
rs1003483
IGF2 ; IGF2-AS ; INS-IGF2
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 		0.010 1.000 1 2015 2015
dbSNP: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
0.827 0.240 11 2148913 intron variant G/A snv 0.37
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
0.827 0.240 11 2148913 intron variant G/A snv 0.37
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2017 2017
dbSNP: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
0.827 0.240 11 2148913 intron variant G/A snv 0.37
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		0.010 1.000 1 2011 2011
dbSNP: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
0.827 0.240 11 2148913 intron variant G/A snv 0.37
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2017 2017
dbSNP: rs10770125
rs10770125
IGF2 ; IGF2-AS ; INS-IGF2
0.882 0.200 11 2147784 missense variant A/G snv 0.49 0.40
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.010 1.000 1 2013 2013
dbSNP: rs10770125
rs10770125
IGF2 ; IGF2-AS ; INS-IGF2
0.882 0.200 11 2147784 missense variant A/G snv 0.49 0.40
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 1.000 1 2017 2017
dbSNP: rs10770125
rs10770125
IGF2 ; IGF2-AS ; INS-IGF2
0.882 0.200 11 2147784 missense variant A/G snv 0.49 0.40
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		0.010 1.000 1 2017 2017
dbSNP: rs10770125
rs10770125
IGF2 ; IGF2-AS ; INS-IGF2
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 		0.010 1.000 1 2013 2013
dbSNP: rs2585
rs2585
IGF2 ; INS-IGF2
11 2129214 3 prime UTR variant T/C;G snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		0.010 1.000 1 2017 2017
dbSNP: rs3741211
rs3741211
IGF2 ; IGF2-AS ; INS-IGF2
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 		0.010 1.000 1 2011 2011
dbSNP: rs3741211
rs3741211
IGF2 ; IGF2-AS ; INS-IGF2
0.925 0.080 11 2147880 non coding transcript exon variant A/G snv 0.36
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs680
rs680
IGF2 ; INS-IGF2
0.925 0.080 11 2132404 3 prime UTR variant T/C;G snv 0.78
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs680
rs680
IGF2 ; INS-IGF2
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 		0.010 1.000 1 2012 2012
dbSNP: rs975030738
rs975030738
IGF2 ; MIR483 ; INS-IGF2
11 2135469 missense variant C/T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs984257990
rs984257990
IGF2 ; MIR483 ; INS-IGF2
0.925 0.080 11 2135495 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 1.000 1 2008 2008
dbSNP: rs984257990
rs984257990
IGF2 ; MIR483 ; INS-IGF2
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 		0.010 1.000 1 2008 2008
dbSNP: rs984257990
rs984257990
IGF2 ; MIR483 ; INS-IGF2
0.925 0.080 11 2135495 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008