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: 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: rs3843482
rs3843482
HMGCR
5 75343434 intron variant T/G snv 0.35
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2019
dbSNP: rs3843482
rs3843482
HMGCR
5 75343434 intron variant T/G snv 0.35
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 2 2018 2019
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: rs10045497
rs10045497
HMGCR
5 75340659 intron variant C/A snv 0.35
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10045497
rs10045497
HMGCR
5 75340659 intron variant C/A snv 0.35
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2013 2013
dbSNP: rs10474434
rs10474434
HMGCR
5 75348856 intron variant G/T snv 0.20
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10474434
rs10474434
HMGCR
5 75348856 intron variant G/T snv 0.20
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10474434
rs10474434
HMGCR
5 75348856 intron variant G/T snv 0.20
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3761739
rs3761739
HMGCR
5 75335676 intron variant C/T snv 0.15
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3761739
rs3761739
HMGCR
5 75335676 intron variant C/T snv 0.15
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3761739
rs3761739
HMGCR
5 75335676 intron variant C/T snv 0.15
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
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: rs6453131
rs6453131
HMGCR
5 75348881 intron variant T/G snv 0.39
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6453131
rs6453131
HMGCR
5 75348881 intron variant T/G snv 0.39
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs6453131
rs6453131
HMGCR
5 75348881 intron variant T/G snv 0.39
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		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: 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: 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