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: rs1445888481
rs1445888481
0.925 0.080 2 112835572 synonymous variant C/T snv 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 1.000 10 2002 2018
dbSNP: rs16944
rs16944
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.060 0.833 6 2006 2016
dbSNP: rs1043973338
rs1043973338
0.882 0.080 2 112830483 missense variant A/C snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 1.000 1 2007 2007
dbSNP: rs1043973338
rs1043973338
0.882 0.080 2 112830483 missense variant A/C snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 1.000 1 2007 2007
dbSNP: rs1043973338
rs1043973338
0.882 0.080 2 112830483 missense variant A/C snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 1.000 1 2007 2007
dbSNP: rs1143633
rs1143633
0.752 0.280 2 112832890 intron variant C/G;T snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 1.000 1 2007 2007
dbSNP: rs772717932
rs772717932
1.000 0.040 2 112830530 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.010 1.000 1 2007 2007
dbSNP: rs772717932
rs772717932
1.000 0.040 2 112830530 missense variant C/A;T snv 4.0E-06; 1.6E-05
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 1.000 1 2007 2007
dbSNP: rs1143627
rs1143627
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56
CUI: C0022578
Disease: Keratoconus
Keratoconus
0.020 1.000 2 2008 2013
dbSNP: rs16944
rs16944
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0022578
Disease: Keratoconus
Keratoconus
0.020 1.000 2 2008 2013
dbSNP: rs1143634
rs1143634
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 1.000 1 2008 2008
dbSNP: rs1143627
rs1143627
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease
0.010 1.000 1 2009 2009
dbSNP: rs1143627
rs1143627
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.010 1.000 1 2009 2009
dbSNP: rs1143627
rs1143627
0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.010 1.000 1 2009 2009
dbSNP: rs1143634
rs1143634
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.010 1.000 1 2009 2009
dbSNP: rs1143634
rs1143634
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.010 1.000 1 2009 2009
dbSNP: rs1143634
rs1143634
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.010 1.000 1 2009 2009
dbSNP: rs1143639
rs1143639
1.000 0.120 2 112831216 non coding transcript exon variant C/T snv 0.20
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.010 1.000 1 2009 2009
dbSNP: rs1143639
rs1143639
1.000 0.120 2 112831216 non coding transcript exon variant C/T snv 0.20
CUI: C0024115
Disease: Lung diseases
Lung diseases
0.010 1.000 1 2009 2009
dbSNP: rs16944
rs16944
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 1.000 1 2009 2009
dbSNP: rs16944
rs16944
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 1.000 1 2009 2009
dbSNP: rs3917356
rs3917356
0.882 0.160 2 112834786 intron variant C/T snv 0.39
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 1.000 1 2009 2009
dbSNP: rs3917356
rs3917356
0.882 0.160 2 112834786 intron variant C/T snv 0.39
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 1.000 1 2009 2009
dbSNP: rs16944
rs16944
0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.040 0.750 4 2010 2014
dbSNP: rs1143634
rs1143634
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.020 1.000 2 2010 2018