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: C3888197
Disease: LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 3 		0.700 0
dbSNP: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2008 2019
dbSNP: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2008 2012
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: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2009 2019
dbSNP: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 3 2009 2013
dbSNP: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 3 2009 2019
dbSNP: rs3846663
rs3846663
HMGCR ; CERT1
0.882 0.120 5 75359901 intron variant C/T snv 0.35
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2009 2019
dbSNP: rs3761740
rs3761740
HMGCR
0.882 0.160 5 75336308 intron variant C/A snv 8.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2009 2009
dbSNP: rs3846663
rs3846663
HMGCR ; CERT1
0.882 0.120 5 75359901 intron variant C/T snv 0.35
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2009 2009
dbSNP: rs3846663
rs3846663
HMGCR ; CERT1
0.882 0.120 5 75359901 intron variant C/T snv 0.35
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2009 2009
dbSNP: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 10 2010 2019
dbSNP: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 8 2010 2019
dbSNP: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 5 2010 2013
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: 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: 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: 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: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2011 2011
dbSNP: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.700 1.000 1 2011 2011
dbSNP: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.700 1.000 1 2011 2011
dbSNP: rs3846663
rs3846663
HMGCR ; CERT1
0.882 0.120 5 75359901 intron variant C/T snv 0.35
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.700 1.000 1 2011 2011
dbSNP: rs10038095
rs10038095
HMGCR
5 75341886 intron variant A/T snv 0.38
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2012 2019