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: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.050 1.000 5 2015 2019
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: 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
dbSNP: rs3846661
rs3846661
HMGCR
5 75343353 intron variant A/G snv 0.56
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
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: 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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.700 1.000 1 2012 2012
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: 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: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2008 2019
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
dbSNP: rs10038095
rs10038095
HMGCR
5 75341886 intron variant A/T snv 0.38
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs12654264
rs12654264
HMGCR
0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 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: rs10038095
rs10038095
HMGCR
5 75341886 intron variant A/T snv 0.38
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
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: 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: 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