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: rs693
rs693
APOB
0.708 0.440 2 21009323 synonymous variant G/A snv 0.39 0.38
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 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: 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: 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: 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: rs2075650
rs2075650
TOMM40
0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2008 2013
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: 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: 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: 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: 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: 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: 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: 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: 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: rs7575840
rs7575840 		1.000 0.040 2 21050618 intergenic variant G/T snv 0.26
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2008 2019
dbSNP: rs1713222
rs1713222 		2 21048451 upstream gene variant A/G snv 0.82
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2008 2008
dbSNP: rs2254287
rs2254287
COL11A2
1.000 0.040 6 33176171 intron variant C/A;G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2008 2008