Source: CURATED

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: rs113542380
rs113542380
2 43237679 intron variant G/A snv 4.7E-02
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 3 2018 2018
dbSNP: rs113542380
rs113542380
2 43237679 intron variant G/A snv 4.7E-02
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs113542380
rs113542380
2 43237679 intron variant G/A snv 4.7E-02
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2016 2016
dbSNP: rs113542380
rs113542380
2 43237679 intron variant G/A snv 4.7E-02
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs113542380
rs113542380
2 43237679 intron variant G/A snv 4.7E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2016 2016
dbSNP: rs17030845
rs17030845
2 43460740 intron variant C/T snv 0.11
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.800 1.000 1 2011 2011
dbSNP: rs202032561
rs202032561
2 43520715 intron variant C/T snv 0.11
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2018 2018
dbSNP: rs2888875
rs2888875
2 43560953 intron variant A/G snv 0.34
Creatinine measurement, serum (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs2888875
rs2888875
2 43560953 intron variant A/G snv 0.34
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2016 2016
dbSNP: rs35590893
rs35590893
2 43489794 intron variant G/A snv 0.22
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2018 2018
dbSNP: rs3764769
rs3764769
2 43505819 intron variant C/T snv 0.21
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.700 1.000 1 2019 2019
dbSNP: rs6708660
rs6708660
2 43525243 intron variant T/C snv 0.43
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs6752964
rs6752964
2 43527516 intron variant T/C snv 0.11
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2018 2018
dbSNP: rs67584485
rs67584485
2 43535056 intron variant A/C;G snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs7557989
rs7557989
2 43403518 intron variant C/T snv 0.34
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs7557989
rs7557989
2 43403518 intron variant C/T snv 0.34
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs7591387
rs7591387
2 43528893 intron variant C/T snv 0.10
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs77059113
rs77059113
2 43445369 intron variant T/G snv 4.5E-02
CUI: C0040420
Disease: Tonometry
Tonometry
0.700 1.000 1 2018 2018
dbSNP: rs77533229
rs77533229
2 43252499 intron variant G/A snv 1.8E-02
Dehydroepiandrosterone sulfate measurement (procedure)
0.700 1.000 1 2019 2019
dbSNP: rs77881454
rs77881454
2 43530154 intron variant A/T snv 0.11
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs77972916
rs77972916
2 43534973 intron variant G/A snv 4.7E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs78487399
rs78487399
2 43582208 intron variant G/C snv 6.2E-02
CUI: C0857490
Disease: Granulocyte count
Granulocyte count
0.700 1.000 1 2016 2016
dbSNP: rs78487399
rs78487399
2 43582208 intron variant G/C snv 6.2E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2016 2016
dbSNP: rs78487399
rs78487399
2 43582208 intron variant G/C snv 6.2E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2016 2016
dbSNP: rs78487399
rs78487399
2 43582208 intron variant G/C snv 6.2E-02
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
0.700 1.000 1 2016 2016