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: 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: rs745410279
rs745410279
IGF1
0.925 0.200 12 102478498 missense variant T/C snv 4.1E-06
CUI: C3501846
Disease: Noonan-Like Syndrome With Loose Anagen Hair
Noonan-Like Syndrome With Loose Anagen Hair 		0.030 1.000 3 2012 2015
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: rs12423791
rs12423791
IGF1
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2013 2013
dbSNP: rs12423791
rs12423791
IGF1
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs12423791
rs12423791
IGF1
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02
CUI: C0027092
Disease: Myopia
Myopia 		0.010 1.000 1 2012 2012
dbSNP: rs12423791
rs12423791
IGF1
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs12423791
rs12423791
IGF1
0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 < 0.001 1 2015 2015
dbSNP: rs2162679
rs2162679
IGF1
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		0.010 1.000 1 2012 2012
dbSNP: rs2162679
rs2162679
IGF1
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2019 2019
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: rs2162679
rs2162679
IGF1
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2019 2019
dbSNP: rs2162679
rs2162679
IGF1
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2019 2019
dbSNP: rs2162679
rs2162679
IGF1
0.851 0.240 12 102477481 intron variant C/G;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2019 2019
dbSNP: rs745410279
rs745410279
IGF1
0.925 0.200 12 102478498 missense variant T/C snv 4.1E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs745805222
rs745805222
IGF1
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		0.010 1.000 1 2012 2012
dbSNP: rs745805222
rs745805222
IGF1
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 1.000 1 2012 2012
dbSNP: rs745805222
rs745805222
IGF1
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 1.000 1 2012 2012
dbSNP: rs745805222
rs745805222
IGF1
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.010 1.000 1 2012 2012
dbSNP: rs745805222
rs745805222
IGF1
0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 1.000 1 2012 2012
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: 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: 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