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: 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
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
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: rs12633551
rs12633551
3 12318995 intron variant C/T snv 2.8E-02
High density lipoprotein measurement
0.700 1.000 1 2017 2017
dbSNP: rs13064760
rs13064760
3 12327902 intron variant C/T snv 8.8E-02
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs13064760
rs13064760
3 12327902 intron variant C/T snv 8.8E-02
RDW - Red blood cell distribution width result
0.700 1.000 1 2019 2019
dbSNP: rs13306745
rs13306745
3 12379557 intron variant G/T snv 3.3E-03
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
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
High density lipoprotein measurement
0.700 1.000 1 2018 2018
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: 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
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: 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: 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
dbSNP: rs7646510
rs7646510
3 12321859 intron variant A/G snv 1.9E-02
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs10510418
rs10510418
1.000 0.040 3 12347064 intron variant A/C snv 0.25
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs11128597
rs11128597
1.000 0.040 3 12303137 intron variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs11128598
rs11128598
1.000 0.040 3 12311827 intron variant T/C snv 0.25
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs11710969
rs11710969
1.000 0.040 3 12302092 intron variant G/A snv 0.28
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs12485478
rs12485478
1.000 0.040 3 12309724 intron variant A/G snv 3.8E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017