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: 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: 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: rs17238484
rs17238484
HMGCR
1.000 0.080 5 75352671 intron variant G/T snv 0.22
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17238484
rs17238484
HMGCR
1.000 0.080 5 75352671 intron variant G/T snv 0.22
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17238484
rs17238484
HMGCR
1.000 0.080 5 75352671 intron variant G/T snv 0.22
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: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2008 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