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: rs11747001
rs11747001
5 133076607 intron variant A/G snv 0.21 0.21
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 2 2018 2019
dbSNP: rs140767284
rs140767284
5 133090504 intron variant T/C snv 6.4E-03
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs147133967
rs147133967
5 133091160 splice region variant TT/- del 5.6E-02 5.2E-02
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs55747751
rs55747751
5 133061659 intron variant G/A;T snv 4.6E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2018 2018
dbSNP: rs56076449
rs56076449
5 133106498 downstream gene variant T/A;G snv 0.25
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption
Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs56076449
rs56076449
5 133106498 downstream gene variant T/A;G snv 0.25
High density lipoprotein measurement
0.700 1.000 1 2019 2019
dbSNP: rs56076449
rs56076449
5 133106498 downstream gene variant T/A;G snv 0.25
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2019 2019
dbSNP: rs62375246
rs62375246
1.000 0.040 5 133103318 intron variant T/A;C snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6596100
rs6596100
0.925 0.080 5 133071366 intron variant C/T snv 0.24
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6596100
rs6596100
0.925 0.080 5 133071366 intron variant C/T snv 0.24
estrogen receptor-negative breast cancer
0.010 1.000 1 2019 2019