Source: ALL

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: 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: 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: 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: 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: 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: 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: rs869320620
rs869320620
IGF2 ; MIR483 ; INS-IGF2
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
IGF2 ; MIR483 ; INS-IGF2
1.000 0.080 11 2135446 stop gained G/A;C snv
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.700 0
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 3 2007 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: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
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
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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.700 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: rs35506085
rs35506085
IGF2 ; IGF2-AS ; INS-IGF2
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
IGF2 ; IGF2-AS ; INS-IGF2
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
IGF2 ; IGF2-AS ; INS-IGF2
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: rs149483638
rs149483638
IGF2 ; IGF2-AS ; INS-IGF2
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 		0.700 1.000 1 2017 2017
dbSNP: rs17885785
rs17885785
IGF2 ; IGF2-AS ; INS-IGF2
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
IGF2 ; IGF2-AS ; INS-IGF2
0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 1.000 1 2015 2015
dbSNP: rs17885785
rs17885785
IGF2 ; IGF2-AS ; INS-IGF2
0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.700 1.000 1 2015 2015
dbSNP: rs17885785
rs17885785
IGF2 ; IGF2-AS ; INS-IGF2
0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.700 1.000 1 2015 2015
dbSNP: rs17885785
rs17885785
IGF2 ; IGF2-AS ; INS-IGF2
0.724 0.240 11 2146620 non coding transcript exon variant C/T snv 0.14
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.700 1.000 1 2015 2015