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: rs646776
rs646776
CELSR2
0.752 0.240 1 109275908 downstream gene variant C/T snv 0.74
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 6 2008 2019
dbSNP: rs12740374
rs12740374
CELSR2
0.851 0.040 1 109274968 3 prime UTR variant G/T snv 0.22
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 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: rs629301
rs629301
CELSR2
0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2008 2019
dbSNP: rs2479409
rs2479409
PCSK9
1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2010 2019
dbSNP: rs602633
rs602633 		0.851 0.080 1 109278889 downstream gene variant T/G snv 0.63
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2008 2012
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: 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: 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: 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: rs4970834
rs4970834
CELSR2
0.925 0.160 1 109272258 intron variant C/T snv 0.17 0.21
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2008 2012
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: rs505151
rs505151
PCSK9
0.732 0.360 1 55063514 missense variant G/A snv 0.95 0.90
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2017
dbSNP: rs514230
rs514230
LINC01132
1 234722850 upstream gene variant A/T snv 0.62
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2019
dbSNP: rs611917
rs611917
CELSR2
1.000 0.040 1 109272630 non coding transcript exon variant A/G snv 0.28 0.32
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2008 2018
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: rs7528419
rs7528419
CELSR2
0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs10495399
rs10495399
RYR2
1 237648783 intron variant T/G snv 5.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10788994
rs10788994 		1 55035303 upstream gene variant C/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: 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: rs10858082
rs10858082
CELSR2
1 109256099 intron variant G/A snv 0.48
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10888898
rs10888898
PCSK9
1 55050835 intron variant A/G snv 0.59
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012