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: C0271183
Disease: Severe myopia
Severe myopia 		0.040 0.500 4 2011 2017
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: 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: rs4764695
rs4764695
HELLPAR ; LINC02456
0.925 0.080 12 102363335 non coding transcript exon variant A/G;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 1.000 2 2010 2014
dbSNP: rs4764695
rs4764695
HELLPAR ; LINC02456
0.925 0.080 12 102363335 non coding transcript exon variant A/G;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 1.000 2 2010 2014
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0027092
Disease: Myopia
Myopia 		0.020 1.000 2 2011 2016
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: rs10860860
rs10860860
HELLPAR ; LINC02456
0.925 0.040 12 102387055 non coding transcript exon variant A/T snv 0.28
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 1.000 1 2011 2011
dbSNP: rs10860860
rs10860860
HELLPAR ; LINC02456
0.925 0.040 12 102387055 non coding transcript exon variant A/T snv 0.28
CUI: C0027092
Disease: Myopia
Myopia 		0.010 1.000 1 2011 2011
dbSNP: rs12426318
rs12426318
HELLPAR
1.000 0.040 12 102241743 non coding transcript exon variant C/A snv 0.18
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.010 1.000 1 2011 2011
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63
CUI: C0280280
Disease: stage, prostate cancer
stage, prostate cancer 		0.010 1.000 1 2013 2013
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63
CUI: C0027092
Disease: Myopia
Myopia 		0.010 1.000 1 2011 2011
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 < 0.001 1 2011 2011
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2013 2013
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63
CUI: C1960398
Disease: HER2-positive carcinoma of breast
HER2-positive carcinoma of breast 		0.010 1.000 1 2013 2013
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
dbSNP: rs2946834
rs2946834
HELLPAR ; LINC02456
0.807 0.200 12 102394036 non coding transcript exon variant A/G snv 0.63
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2013 2013
dbSNP: rs5742714
rs5742714
IGF1 ; HELLPAR ; LINC02456
0.882 0.160 12 102396074 3 prime UTR variant C/G snv 8.9E-02
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs5742714
rs5742714
IGF1 ; HELLPAR ; LINC02456
0.882 0.160 12 102396074 3 prime UTR variant C/G snv 8.9E-02
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 1.000 1 2016 2016
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: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		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: C0339678
Disease: Simple myopia
Simple myopia 		0.010 1.000 1 2016 2016
dbSNP: rs6214
rs6214
IGF1 ; HELLPAR ; LINC02456
0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.010 1.000 1 2014 2014