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: rs151305716
rs151305716
20 53605567 intron variant C/T snv 8.1E-03
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 2 2016 2019
dbSNP: rs151305716
rs151305716
20 53605567 intron variant C/T snv 8.1E-03
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 2 2016 2019
dbSNP: rs151305716
rs151305716
20 53605567 intron variant C/T snv 8.1E-03
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2016 2016
dbSNP: rs2766678
rs2766678
20 53591817 intron variant G/A snv 0.86
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
0.700 1.000 1 2017 2017
dbSNP: rs2766680
rs2766680
1.000 0.040 20 53595734 intron variant G/A snv 0.79
CUI: C0013595
Disease: Eczema
Eczema
0.700 1.000 1 2019 2019
dbSNP: rs4811444
rs4811444
20 53590524 intron variant T/C snv 0.31
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs4811444
rs4811444
20 53590524 intron variant T/C snv 0.31
RDW - Red blood cell distribution width result
0.700 1.000 1 2019 2019
dbSNP: rs767530299
rs767530299
1.000 0.080 20 53581860 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0
dbSNP: rs1056948
rs1056948
0.925 0.080 20 53567166 3 prime UTR variant C/A;T snv 8.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2011 2011
dbSNP: rs1056948
rs1056948
0.925 0.080 20 53567166 3 prime UTR variant C/A;T snv 8.8E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2011 2011
dbSNP: rs16998248
rs16998248
0.882 0.040 20 53581801 synonymous variant T/A snv 0.11 8.8E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 1.000 1 2015 2015
dbSNP: rs16998248
rs16998248
0.882 0.040 20 53581801 synonymous variant T/A snv 0.11 8.8E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 1.000 1 2015 2015
dbSNP: rs16998248
rs16998248
0.882 0.040 20 53581801 synonymous variant T/A snv 0.11 8.8E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 1.000 1 2015 2015
dbSNP: rs35720349
rs35720349
0.882 0.040 20 53577121 missense variant G/A snv 3.4E-02 1.6E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.010 1.000 1 2015 2015
dbSNP: rs35720349
rs35720349
0.882 0.040 20 53577121 missense variant G/A snv 3.4E-02 1.6E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 1.000 1 2015 2015
dbSNP: rs35720349
rs35720349
0.882 0.040 20 53577121 missense variant G/A snv 3.4E-02 1.6E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 1.000 1 2015 2015