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: rs2853550
rs2853550
0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
0.020 1.000 2 2017 2020
dbSNP: rs2853550
rs2853550
0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83
CUI: C0008707
Disease: Chronic osteomyelitis
Chronic osteomyelitis
0.010 1.000 1 2019 2019
dbSNP: rs2853550
rs2853550
0.882 0.120 2 112829544 downstream gene variant A/G snv 0.83
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease
0.010 1.000 1 2016 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: 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: rs1143643
rs1143643
0.790 0.320 2 112830725 intron variant C/T snv 0.29
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms
0.010 1.000 1 2016 2016
dbSNP: rs1143643
rs1143643
0.790 0.320 2 112830725 intron variant C/T snv 0.29
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies
0.010 1.000 1 2010 2010
dbSNP: rs1143643
rs1143643
0.790 0.320 2 112830725 intron variant C/T snv 0.29
CUI: C0860603
Disease: Anxiety symptoms
Anxiety symptoms
0.010 1.000 1 2016 2016
dbSNP: rs1143643
rs1143643
0.790 0.320 2 112830725 intron variant C/T snv 0.29
Secondary malignant neoplasm of lymph node
0.010 1.000 1 2012 2012
dbSNP: rs1143643
rs1143643
0.790 0.320 2 112830725 intron variant C/T snv 0.29
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 1.000 1 2014 2014
dbSNP: rs1143643
rs1143643
0.790 0.320 2 112830725 intron variant C/T snv 0.29
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection
0.010 1.000 1 2016 2016
dbSNP: rs1143643
rs1143643
0.790 0.320 2 112830725 intron variant C/T snv 0.29
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 1.000 1 2014 2014
dbSNP: rs1143643
rs1143643
0.790 0.320 2 112830725 intron variant C/T snv 0.29
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological
0.010 1.000 1 2016 2016
dbSNP: rs1143643
rs1143643
0.790 0.320 2 112830725 intron variant C/T snv 0.29
CUI: C0333523
Disease: Deep caries
Deep caries
0.010 1.000 1 2015 2015
dbSNP: rs1143643
rs1143643
0.790 0.320 2 112830725 intron variant C/T snv 0.29
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.010 1.000 1 2012 2012
dbSNP: rs1143642
rs1143642
2 112830976 intron variant A/G snv 0.89
CUI: C4531177
Disease: Sleep onset Insomnia
Sleep onset Insomnia
0.010 1.000 1 2015 2015
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: rs1143634
rs1143634
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
0.040 0.750 4 2016 2019
dbSNP: rs1143634
rs1143634
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.030 1.000 3 2012 2019
dbSNP: rs1143634
rs1143634
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.030 1.000 3 2013 2018
dbSNP: rs1143634
rs1143634
0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.030 1.000 3 2012 2019