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: rs2651899
rs2651899
0.882 0.040 1 3167148 intron variant T/A;C snv
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.880 1.000 9 2011 2020
dbSNP: rs1569419
rs1569419
1 3080038 intron variant T/C snv 0.73
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 2 2016 2019
dbSNP: rs1569419
rs1569419
1 3080038 intron variant T/C snv 0.73
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 2 2016 2019
dbSNP: rs10218452
rs10218452
1 3159033 intron variant A/G snv 0.23
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.700 1.000 1 2016 2016
dbSNP: rs10909942
rs10909942
1 3402205 intron variant C/A;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs116525159
rs116525159
1 3188408 intron variant G/A snv 3.2E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs12135062
rs12135062
1 3186748 intron variant G/A;T snv
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.700 1.000 1 2016 2016
dbSNP: rs145611121
rs145611121
1 3402268 intron variant -/C;CC delins
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
0.700 1.000 1 2016 2016
dbSNP: rs1569419
rs1569419
1 3080038 intron variant T/C snv 0.73
Platelet Component Distribution Width Measurement
0.700 1.000 1 2016 2016
dbSNP: rs1569419
rs1569419
1 3080038 intron variant T/C snv 0.73
Platelet mean volume determination (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs1569419
rs1569419
1 3080038 intron variant T/C snv 0.73
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2016 2016
dbSNP: rs1572037
rs1572037
1.000 0.080 1 3337805 intron variant T/A;C snv 0.33
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs1999527
rs1999527
1.000 0.080 1 3339544 intron variant C/A;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.700 1.000 1 2012 2012
dbSNP: rs200052869
rs200052869
1.000 1 3402925 missense variant G/A snv 2.4E-05 2.1E-05
CUI: C3809288
Disease: LEFT VENTRICULAR NONCOMPACTION 8
LEFT VENTRICULAR NONCOMPACTION 8
0.700 1.000 1 2013 2013
dbSNP: rs2075968
rs2075968
1 3164677 intron variant C/T snv 0.23
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
0.700 1.000 1 2016 2016
dbSNP: rs2455101
rs2455101
1.000 0.040 1 3259164 intron variant A/G snv 0.40
CUI: C0013595
Disease: Eczema
Eczema
0.700 1.000 1 2019 2019
dbSNP: rs2493291
rs2493291
1.000 0.120 1 3412820 intron variant C/T snv 0.11 0.14
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.700 1.000 1 2019 2019
dbSNP: rs2493292
rs2493292
1 3412095 missense variant C/T snv 0.12; 4.4E-06 0.14
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2016 2016
dbSNP: rs2493292
rs2493292
1 3412095 missense variant C/T snv 0.12; 4.4E-06 0.14
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2016 2016
dbSNP: rs2493296
rs2493296
1 3410468 intron variant C/G;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.700 1.000 1 2019 2019
dbSNP: rs2493296
rs2493296
1 3410468 intron variant C/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs2493298
rs2493298
1.000 0.040 1 3409348 intron variant C/A snv 0.14
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.700 1.000 1 2018 2018
dbSNP: rs2742690
rs2742690
1 3070704 intron variant C/A;T snv 0.13
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs397514743
rs397514743
1.000 1 3412644 missense variant A/G snv 2.7E-04 4.2E-05
CUI: C3809288
Disease: LEFT VENTRICULAR NONCOMPACTION 8
LEFT VENTRICULAR NONCOMPACTION 8
0.700 1.000 1 2013 2013
dbSNP: rs397514744
rs397514744
0.925 1 3402986 missense variant C/T snv 3.7E-05 2.8E-05
CUI: C3809288
Disease: LEFT VENTRICULAR NONCOMPACTION 8
LEFT VENTRICULAR NONCOMPACTION 8
0.700 1.000 1 2013 2013