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: rs12490265
rs12490265
1.000 0.040 3 12343043 intron variant G/A snv 0.25
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs12493718
rs12493718
1.000 0.040 3 12322138 intron variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs12495364
rs12495364
1.000 0.040 3 12320430 intron variant T/C snv 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs13061415
rs13061415
1.000 0.040 3 12308425 intron variant T/C snv 0.28
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs17036326
rs17036326
1.000 0.040 3 12347814 intron variant A/G snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs17036328
rs17036328
1.000 0.040 3 12348985 intron variant T/C snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs17036328
rs17036328
1.000 0.040 3 12348985 intron variant T/C snv 0.14
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2016 2016
dbSNP: rs17036328
rs17036328
1.000 0.040 3 12348985 intron variant T/C snv 0.14
CUI: C4049919
Disease: Insulin Sensitivity Measurement
Insulin Sensitivity Measurement
0.700 1.000 1 2016 2016
dbSNP: rs17793693
rs17793693
1.000 0.040 3 12304472 intron variant C/A;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs1797912
rs1797912
1.000 0.040 3 12428740 intron variant A/C snv 0.33
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2018 2018
dbSNP: rs1797912
rs1797912
1.000 0.040 3 12428740 intron variant A/C snv 0.33
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2018 2018
dbSNP: rs6785890
rs6785890
1.000 0.040 3 12294317 intron variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs7620165
rs7620165
1.000 0.040 3 12302942 intron variant A/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
0.700 1.000 1 2017 2017
dbSNP: rs7649970
rs7649970
1.000 0.040 3 12350773 intron variant C/T snv 0.14
CUI: C0455829
Disease: Waist Circumference
Waist Circumference
0.700 1.000 1 2019 2019
dbSNP: rs2960422
rs2960422
1.000 0.080 3 12293492 intron variant G/A snv 0.59
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 2 2016 2019
dbSNP: rs72551363
rs72551363
0.882 0.080 3 12417048 missense variant T/A snv
Familial Partial Lipodystrophy, Type 3
0.800 1.000 2 2002 2002
dbSNP: rs17036160
rs17036160
1.000 0.080 3 12288284 intron variant C/T snv 8.8E-02
Diabetes Mellitus, Non-Insulin-Dependent
0.700 1.000 1 2019 2019
dbSNP: rs17036170
rs17036170
1.000 0.080 3 12288912 5 prime UTR variant G/A snv 1.1E-02
Chemical and Drug Induced Liver Injury
0.700 1.000 1 2012 2012
dbSNP: rs17036170
rs17036170
1.000 0.080 3 12288912 5 prime UTR variant G/A snv 1.1E-02
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease
0.700 1.000 1 2012 2012
dbSNP: rs2960422
rs2960422
1.000 0.080 3 12293492 intron variant G/A snv 0.59
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 1.000 1 2018 2018
dbSNP: rs3963364
rs3963364
1.000 0.080 3 12343858 intron variant C/A;T snv
Diabetes Mellitus, Non-Insulin-Dependent
0.700 1.000 1 2019 2019
dbSNP: rs4684848
rs4684848
1.000 0.080 3 12354146 intron variant G/A;C snv
Diabetes Mellitus, Non-Insulin-Dependent
0.700 1.000 1 2019 2019
dbSNP: rs71304101
rs71304101
1.000 0.080 3 12355414 intron variant G/A snv 9.2E-02
Diabetes Mellitus, Non-Insulin-Dependent
0.700 1.000 1 2018 2018
dbSNP: rs121909242
rs121909242
0.925 0.080 3 12416825 missense variant A/C snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.700 0
dbSNP: rs121909242
rs121909242
0.925 0.080 3 12416825 missense variant A/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.700 0