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: rs1699337
rs1699337 		3 12408594 intron variant G/A;T snv
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs10510419
rs10510419 		3 12385437 intron variant G/A;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs11712037
rs11712037 		3 12303231 intron variant C/G snv 9.2E-02
CUI: C0518026
Disease: body fat percentage (physical finding)
body fat percentage (physical finding) 		0.700 1.000 1 2019 2019
dbSNP: rs117350179
rs117350179 		3 12332833 intron variant C/G snv 2.9E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12629751
rs12629751 		3 12357908 intron variant C/T snv 7.6E-02
CUI: C0202194
Disease: Potassium measurement
Potassium measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12631819
rs12631819 		3 12301362 intron variant G/A;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs12633551
rs12633551 		3 12318995 intron variant C/T snv 2.8E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12633551
rs12633551 		3 12318995 intron variant C/T snv 2.8E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2017 2017
dbSNP: rs13064760
rs13064760 		3 12327902 intron variant C/T snv 8.8E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs13064760
rs13064760 		3 12327902 intron variant C/T snv 8.8E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs13306745
rs13306745 		3 12379557 intron variant G/T snv 3.3E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs13306745
rs13306745 		3 12379557 intron variant G/T snv 3.3E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17036321
rs17036321 		3 12343100 intron variant T/C;G snv 2.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17036321
rs17036321 		3 12343100 intron variant T/C;G snv 2.5E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs35240997
rs35240997 		3 12337852 intron variant A/G snv 0.20
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs35240997
rs35240997 		3 12337852 intron variant A/G snv 0.20
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs375411329
rs375411329 		3 12379746 missense variant A/G snv 7.0E-06
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs4073770
rs4073770 		3 12326734 intron variant A/T snv 0.25
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs4135361
rs4135361 		3 12429164 intron variant G/A snv 1.7E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4135361
rs4135361 		3 12429164 intron variant G/A snv 1.7E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs587780424
rs587780424 		3 12433975 missense variant A/C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs6442310
rs6442310 		3 12316731 intron variant T/A snv 0.66
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs6802898
rs6802898 		3 12349708 intron variant C/T snv 0.27
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7646510
rs7646510 		3 12321859 intron variant A/G snv 1.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7646510
rs7646510 		3 12321859 intron variant A/G snv 1.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012