Source: GWASCAT

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 14 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 12 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 10 2010 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 9 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 9 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 8 2010 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 8 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 7 2010 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 7 2008 2019
dbSNP: rs1367117
rs1367117
APOB
1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 7 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 7 2010 2019
dbSNP: rs6882076
rs6882076
TIMD4
0.827 0.160 5 156963286 upstream gene variant T/C snv 0.56
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 7 2010 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 6 2009 2018
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 6 2009 2019
dbSNP: rs4722551
rs4722551
LOC105375199
7 25952206 upstream gene variant T/C;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 6 2013 2019
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 6 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 6 2008 2019
dbSNP: rs964184
rs964184
ZPR1
0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 6 2010 2019
dbSNP: rs9987289
rs9987289
LOC157273
1.000 0.040 8 9325848 non coding transcript exon variant A/G snv 0.87
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 6 2010 2019
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 5 2013 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 5 2009 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 5 2010 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 5 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 5 2010 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 5 2010 2019