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: rs5742617
rs5742617
IGF1
12 102476127 intron variant C/T snv 8.7E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5742626
rs5742626
IGF1 ; LINC02456
12 102464131 intron variant T/C snv 2.3E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5742626
rs5742626
IGF1 ; LINC02456
12 102464131 intron variant T/C snv 2.3E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5742626
rs5742626
IGF1 ; LINC02456
12 102464131 intron variant T/C snv 2.3E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5742643
rs5742643
IGF1 ; LINC02456
12 102444085 intron variant T/C snv 0.76
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs5742663
rs5742663
IGF1 ; LINC02456
12 102430212 intron variant T/A;G snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5742683
rs5742683
IGF1 ; LINC02456
12 102419939 intron variant A/G snv 3.3E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5742692
rs5742692
IGF1 ; LINC02456
12 102405820 intron variant A/G snv 6.6E-02
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs5742692
rs5742692
IGF1 ; LINC02456
12 102405820 intron variant A/G snv 6.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2010 2010
dbSNP: rs587779350
rs587779350
IGF1 ; LINC02456
1.000 0.120 12 102419619 missense variant G/A snv 7.0E-06
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.700 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: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs7300373
rs7300373
IGF1 ; LINC02456
12 102438008 intron variant T/G snv 1.4E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9308315
rs9308315
IGF1 ; LINC02456
12 102410115 intron variant A/C;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs972936
rs972936
IGF1 ; LINC02456
0.807 0.200 12 102431143 intron variant T/C snv 0.70
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2019 2019
dbSNP: rs972936
rs972936
IGF1 ; LINC02456
0.807 0.200 12 102431143 intron variant T/C snv 0.70
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs972936
rs972936
IGF1 ; LINC02456
0.807 0.200 12 102431143 intron variant T/C snv 0.70
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs121912430
rs121912430
IGF1 ; LINC02456
1.000 0.120 12 102419637 missense variant C/T snv
CUI: C1837475
Disease: Insulin-Like Growth Factor I Deficiency
Insulin-Like Growth Factor I Deficiency 		0.700 0
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: rs35767
rs35767
IGF1 ; LOC105369944
0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.050 0.800 5 2012 2018
dbSNP: rs35767
rs35767
IGF1 ; LOC105369944
0.763 0.360 12 102481791 upstream gene variant A/C;G;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.040 1.000 4 2015 2018
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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2011 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