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: rs4420638
rs4420638
APOC1
0.708 0.520 19 44919689 downstream gene variant A/G snv 0.18
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 10 2007 2019
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: 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: rs10401969
rs10401969
SUGP1
0.776 0.240 19 19296909 intron variant T/C snv 0.10
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2009 2018
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: rs12916
rs12916
HMGCR ; CERT1
0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2010 2019
dbSNP: rs562338
rs562338 		0.807 0.160 2 21065449 intergenic variant A/G snv 0.69
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: rs2000999
rs2000999
HPR ; TXNL4B
1.000 0.080 16 72074194 intron variant G/A snv 0.16
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2010 2019
dbSNP: rs2954029
rs2954029 		0.807 0.160 8 125478730 intron variant A/T snv 0.42
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2010 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: 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: rs12670798
rs12670798
DNAH11 ; LOC105375183
1.000 0.040 7 21567734 intron variant T/C snv 0.26
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2009 2019
dbSNP: rs157580
rs157580
TOMM40
0.882 0.160 19 44892009 intron variant G/A snv 0.69
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2009 2012
dbSNP: rs174546
rs174546
FADS1 ; FADS2
0.807 0.200 11 61802358 3 prime UTR variant C/T snv 0.28
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2009 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: rs3764261
rs3764261 		0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2010 2019
dbSNP: rs405509
rs405509
APOE
0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2012 2013
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: 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: 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