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: rs167479
rs167479
19 11416089 missense variant T/A;C;G snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 5 2016 2019
dbSNP: rs167479
rs167479
19 11416089 missense variant T/A;C;G snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 3 2016 2017
dbSNP: rs167479
rs167479
19 11416089 missense variant T/A;C;G snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.700 1.000 2 2016 2016
dbSNP: rs167479
rs167479
19 11416089 missense variant T/A;C;G snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.700 1.000 1 2019 2019
dbSNP: rs167479
rs167479
19 11416089 missense variant T/A;C;G snv
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure
0.700 1.000 1 2016 2016
dbSNP: rs317911
rs317911
19 11400737 intron variant T/C snv 9.0E-02
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs77279095
rs77279095
19 11415506 intron variant G/A snv 4.2E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2017 2017
dbSNP: rs318699
rs318699
0.882 0.080 19 11390564 intron variant A/G snv 0.73
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
0.010 1.000 1 2008 2008
dbSNP: rs318699
rs318699
0.882 0.080 19 11390564 intron variant A/G snv 0.73
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
0.010 1.000 1 2008 2008
dbSNP: rs318699
rs318699
0.882 0.080 19 11390564 intron variant A/G snv 0.73
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.010 1.000 1 2008 2008