Source: GWASDB

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: rs6511720
rs6511720
LDLR
0.790 0.120 19 11091630 intron variant G/T snv 0.12
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		0.810 1.000 1 2013 2017
dbSNP: rs6511720
rs6511720
LDLR
0.790 0.120 19 11091630 intron variant G/T snv 0.12
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 10 2008 2019
dbSNP: rs6511720
rs6511720
LDLR
0.790 0.120 19 11091630 intron variant G/T snv 0.12
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 4 2010 2019
dbSNP: rs2228671
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2008 2019
dbSNP: rs2228671
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2009 2019
dbSNP: rs688
rs688
LDLR
0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs17249141
rs17249141
LDLR
19 11089332 upstream gene variant C/T snv 3.3E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2013 2019
dbSNP: rs2738446
rs2738446
LDLR
19 11116650 intron variant C/A;G snv 0.34
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2011 2012
dbSNP: rs2738452
rs2738452
LDLR
19 11118542 intron variant A/G snv 0.34
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2012 2017
dbSNP: rs5930
rs5930
LDLR ; MIR6886
0.827 0.200 19 11113589 synonymous variant A/G snv 0.63 0.66
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2012 2018
dbSNP: rs6511720
rs6511720
LDLR
0.790 0.120 19 11091630 intron variant G/T snv 0.12
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.800 1.000 1 2011 2011
dbSNP: rs688
rs688
LDLR
0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 1 2012 2019
dbSNP: rs2228671
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.730 1.000 1 2010 2020
dbSNP: rs6511720
rs6511720
LDLR
0.790 0.120 19 11091630 intron variant G/T snv 0.12
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.720 1.000 2 2011 2016
dbSNP: rs688
rs688
LDLR
0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.710 1.000 1 2008 2014
dbSNP: rs6511720
rs6511720
LDLR
0.790 0.120 19 11091630 intron variant G/T snv 0.12
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 10 2008 2013
dbSNP: rs2228671
rs2228671
LDLR
0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 3 2008 2012
dbSNP: rs17242787
rs17242787
LDLR
19 11091784 intron variant T/A snv 6.4E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs17242787
rs17242787
LDLR
19 11091784 intron variant T/A snv 6.4E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs17248720
rs17248720
LDLR
19 11087511 upstream gene variant C/T snv 0.16
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs17248720
rs17248720
LDLR
19 11087511 upstream gene variant C/T snv 0.16
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs688
rs688
LDLR
0.742 0.400 19 11116926 synonymous variant C/T snv 0.39 0.34
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs17242381
rs17242381
LDLR
19 11096053 intron variant T/C;G snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17242395
rs17242395
LDLR
19 11096293 intron variant G/A snv 8.6E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17242787
rs17242787
LDLR
19 11091784 intron variant T/A snv 6.4E-03
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012