Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1011770
rs1011770
0.925 0.040 2 159382207 intron variant A/G snv 2.5E-02
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1011770
rs1011770
0.925 0.040 2 159382207 intron variant A/G snv 2.5E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
Digestive System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs10173538
rs10173538
2 159712765 intron variant C/G;T snv
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs10173538
rs10173538
2 159712765 intron variant C/G;T snv
CUI: C0857490
Disease: Granulocyte count
Granulocyte count
0.700 1.000 1 2016 2016
dbSNP: rs10173538
rs10173538
2 159712765 intron variant C/G;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2016 2016
dbSNP: rs10173538
rs10173538
2 159712765 intron variant C/G;T snv
CUI: C0005612
Disease: Birth Weight
Birth Weight
Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs10173538
rs10173538
2 159712765 intron variant C/G;T snv
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2016 2016
dbSNP: rs11898293
rs11898293
1.000 0.040 2 159696082 intron variant T/C snv 0.46
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs174230
rs174230
2 159318799 downstream gene variant T/A;C;G snv
CUI: C1720824
Disease: Sudden Cardiac Arrest
Sudden Cardiac Arrest
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4665058
rs4665058
2 159333698 intron variant A/C snv 0.90
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4665058
rs4665058
2 159333698 intron variant A/C snv 0.90
CUI: C1720824
Disease: Sudden Cardiac Arrest
Sudden Cardiac Arrest
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs62173239
rs62173239
2 159488513 intron variant A/G snv 1.8E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019