Source: ALL

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: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.010 1.000 1 2018 2018
dbSNP: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018
dbSNP: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2015 2015
dbSNP: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2018 2018
dbSNP: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs17238484
rs17238484
HMGCR
1.000 0.080 5 75352671 intron variant G/T snv 0.22
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2015 2015
dbSNP: rs17238540
rs17238540
HMGCR ; CERT1
1.000 0.040 5 75359673 non coding transcript exon variant T/G snv 4.0E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 1.000 1 2008 2008
dbSNP: rs17238540
rs17238540
HMGCR ; CERT1
1.000 0.040 5 75359673 non coding transcript exon variant T/G snv 4.0E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 1.000 1 2008 2008
dbSNP: rs3761740
rs3761740
HMGCR
0.882 0.160 5 75336308 intron variant C/A snv 8.2E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2010 2010
dbSNP: rs3761740
rs3761740
HMGCR
0.882 0.160 5 75336308 intron variant C/A snv 8.2E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 1.000 1 2013 2013
dbSNP: rs3761740
rs3761740
HMGCR
0.882 0.160 5 75336308 intron variant C/A snv 8.2E-02
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 1.000 1 2013 2013
dbSNP: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.010 1.000 1 2016 2016
dbSNP: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2010 2010
dbSNP: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		0.010 1.000 1 2016 2016
dbSNP: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		0.010 1.000 1 2014 2014
dbSNP: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.010 1.000 1 2016 2016
dbSNP: rs3846663
rs3846663
HMGCR ; CERT1
0.882 0.120 5 75359901 intron variant C/T snv 0.35
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		0.010 1.000 1 2014 2014
dbSNP: rs3846663
rs3846663
HMGCR ; CERT1
0.882 0.120 5 75359901 intron variant C/T snv 0.35
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2014 2014
dbSNP: rs4629571
rs4629571
HMGCR ; CERT1
0.925 0.160 5 75362479 intron variant A/G snv 8.7E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs4629571
rs4629571
HMGCR ; CERT1
0.925 0.160 5 75362479 intron variant A/G snv 8.7E-02
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.010 1.000 1 2010 2010
dbSNP: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 1.000 2 2016 2018
dbSNP: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 1.000 2 2016 2018
dbSNP: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		0.020 0.500 2 2019 2019