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: rs4803750
rs4803750
BCL3
0.807 0.240 19 44744370 upstream gene variant A/G snv 7.7E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2008 2018
dbSNP: rs515135
rs515135 		0.807 0.160 2 21063185 intergenic variant T/C snv 0.73
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2009 2019
dbSNP: rs660240
rs660240
CELSR2
1 109275216 3 prime UTR variant T/C snv 0.75
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2008 2019
dbSNP: rs7412
rs7412
APOE
0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2010 2019
dbSNP: rs10402271
rs10402271 		1.000 0.080 19 44825957 downstream gene variant T/G snv 0.28
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2008 2018
dbSNP: rs10455872
rs10455872
LPA
0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs11065987
rs11065987 		0.807 0.280 12 111634620 intergenic variant A/G snv 0.29
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs11136341
rs11136341
PLEC
8 143969375 intron variant A/G snv 0.40
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs11220462
rs11220462
ST3GAL4
11 126374057 intron variant G/A snv 0.12
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2019
dbSNP: rs11668477
rs11668477 		0.925 0.080 19 11084354 downstream gene variant A/G snv 0.34
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 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: rs12027135
rs12027135
MACO1
1 25449242 intron variant A/T snv 0.50
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2019
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 2 2008 2019
dbSNP: rs12713956
rs12713956
APOB
2 21018633 intron variant A/G snv 0.14
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs12721109
rs12721109
APOC4 ; APOC4-APOC2
1.000 0.080 19 44943964 intron variant G/A snv 1.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs1564348
rs1564348
SLC22A1
6 160157828 intron variant T/C snv 0.14
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2019
dbSNP: rs16996148
rs16996148 		0.882 0.120 19 19547663 downstream gene variant G/T snv 0.10
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2008 2012
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2018
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: rs2081687
rs2081687 		0.882 0.240 8 58476006 intergenic variant T/C snv 0.70
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs2131925
rs2131925
DOCK7
1 62560271 intron variant G/T snv 0.57
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: rs2642442
rs2642442
MTARC1
1 220800221 intron variant C/T snv 0.73
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2019
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