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: rs749124997
rs749124997
IGF1 ; HELLPAR ; LINC02456
1.000 0.040 12 102402539 missense variant C/T snv 4.0E-06
CUI: C0017638
Disease: Glioma
Glioma 		0.010 1.000 1 1999 1999
dbSNP: rs745805222
rs745805222
IGF1
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.100 1.000 11 2007 2018
dbSNP: rs745805222
rs745805222
IGF1
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		0.010 1.000 1 2007 2007
dbSNP: rs1239905891
rs1239905891
IGF1
0.925 0.080 12 102475786 missense variant G/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 1.000 1 2008 2008
dbSNP: rs1239905891
rs1239905891
IGF1
0.925 0.080 12 102475786 missense variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs1239905891
rs1239905891
IGF1
0.925 0.080 12 102475786 missense variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs748799635
rs748799635
IGF1
1.000 0.080 12 102475727 missense variant C/T snv 8.0E-06
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2008 2008
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.030 1.000 3 2010 2014
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 1.000 2 2010 2018
dbSNP: rs2072592
rs2072592
IGF1 ; LINC02456
0.925 0.120 12 102419854 intron variant C/T snv 2.8E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2010 2010
dbSNP: rs2162679
rs2162679
IGF1
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2010 2010
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.010 1.000 1 2010 2010
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
dbSNP: rs5742612
rs5742612
IGF1 ; LOC105369944
0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.010 1.000 1 2010 2010
dbSNP: rs5742714
rs5742714
IGF1 ; HELLPAR ; LINC02456
0.882 0.160 12 102396074 3 prime UTR variant C/G snv 8.9E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0032584
Disease: polyps
polyps 		0.010 1.000 1 2010 2010
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.010 1.000 1 2010 2010
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.010 1.000 1 2010 2010
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2010 2010
dbSNP: rs7956547
rs7956547
IGF1
0.925 0.120 12 102465038 intron variant T/C snv 0.25
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2010 2010
dbSNP: rs978458
rs978458
IGF1 ; LINC02456
0.925 0.120 12 102408461 intron variant T/C snv 0.69
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2010 2010
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.040 0.500 4 2011 2017
dbSNP: rs6220
rs6220
IGF1 ; HELLPAR ; LINC02456
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2011 2018
dbSNP: rs6220
rs6220
IGF1 ; HELLPAR ; LINC02456
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2011 2018