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: rs11206510
rs11206510 		0.763 0.240 1 55030366 intergenic variant T/A;C;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 6 2008 2019
dbSNP: rs599839
rs599839
PSRC1
0.724 0.360 1 109279544 downstream gene variant G/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2008 2019
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2008 2019
dbSNP: rs4299376
rs4299376
ABCG8 ; LOC102725159
0.851 0.120 2 43845437 intron variant G/C;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2010 2019
dbSNP: rs1801689
rs1801689
APOH
17 66214462 missense variant A/C;G snv 4.0E-06; 2.4E-02; 4.8E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2018
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: rs1169288
rs1169288
HNF1A ; HNF1A-AS1
0.776 0.160 12 120978847 missense variant A/C;T snv 0.35
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2019
dbSNP: rs11806638
rs11806638
PCSK9
1 55052487 intron variant C/A;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs2072183
rs2072183
NPC1L1
0.925 0.040 7 44539581 synonymous variant G/A;C snv 4.0E-06; 0.25
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2019
dbSNP: rs2255141
rs2255141
GPAM
10 112174128 intron variant A/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs2902940
rs2902940
LOC105372618
20 40462847 regulatory region variant A/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2013
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs499883
rs499883
PCSK9
1 55053501 intron variant G/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs635634
rs635634 		0.882 0.160 9 133279427 upstream gene variant T/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2019
dbSNP: rs6657811
rs6657811
CELSR2
1 109264661 intron variant A/C;T snv 4.0E-06; 0.10
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2008 2019
dbSNP: rs676210
rs676210
APOB
0.925 0.120 2 21008652 missense variant G/A;T snv 0.29
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs10260606
rs10260606 		7 44544952 upstream gene variant G/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2012 2018
dbSNP: rs1042031
rs1042031
APOB
0.790 0.200 2 21002881 stop gained C/A;T snv 8.0E-06; 0.15
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1065853
rs1065853 		19 44909976 non coding transcript exon variant G/A;C;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2013 2019
dbSNP: rs10789117
rs10789117
ANGPTL3 ; DOCK7
1 62606594 intron variant A/C;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10916704
rs10916704
PLA2G5
1 20074498 intron variant G/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11024739
rs11024739
SPTY2D1
11 18624296 intron variant C/A;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11206517
rs11206517
PCSK9
1.000 0.120 1 55060755 intron variant T/C;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1146586
rs1146586
ACADM
1 75762289 intron variant C/A;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11466654
rs11466654
TLR10
4 38774508 synonymous variant T/C;G snv 1.1E-03; 1.8E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012