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: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.010 1.000 1 2014 2014
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		0.010 1.000 1 2014 2014
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2018 2018
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2015 2015
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 1.000 1 2017 2017
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2014 2014
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2017 2017
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2015 2015
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		0.010 1.000 1 2012 2012
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2017 2017
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 1.000 1 2017 2017
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 1.000 1 2014 2014
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.010 1.000 1 2017 2017
dbSNP: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 1.000 1 2017 2017
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: rs6218
rs6218
IGF1 ; HELLPAR ; LINC02456
0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2015 2015
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
dbSNP: rs6220
rs6220
IGF1 ; HELLPAR ; LINC02456
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2013 2018
dbSNP: rs6220
rs6220
IGF1 ; HELLPAR ; LINC02456
0.925 0.080 12 102400737 3 prime UTR variant G/A snv 0.67
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2013 2018
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: rs1520220
rs1520220
IGF1 ; LINC02456
0.807 0.280 12 102402744 intron variant G/C;T snv 0.76
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2018 2018
dbSNP: rs1520220
rs1520220
IGF1 ; LINC02456
0.807 0.280 12 102402744 intron variant G/C;T snv 0.76
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018