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
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
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
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
12 102464131 intron variant T/C snv 2.3E-02
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs5742643
rs5742643
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
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
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
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
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: rs7300373
rs7300373
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
12 102410115 intron variant A/C;T snv
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs12423791
rs12423791
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
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
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: rs12423791
rs12423791
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
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: rs5742629
rs5742629
1.000 0.040 12 102463485 non coding transcript exon variant T/C snv 0.32
CUI: C0027092
Disease: Myopia
Myopia
0.010 1.000 1 2012 2012
dbSNP: rs749124997
rs749124997
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: rs776234219
rs776234219
1.000 0.040 12 102419531 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.010 1.000 1 2013 2013
dbSNP: rs6220
rs6220
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
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
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
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: rs1239905891
rs1239905891
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
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