Source: CURATED

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: 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 8 2008 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: 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: rs1801689
rs1801689
APOH
17 66214462 missense variant A/C;G snv 4.0E-06; 2.4E-02; 4.8E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2012 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 5 2010 2019
dbSNP: rs3757354
rs3757354
MYLIP
6 16127176 upstream gene variant C/T snv 0.27
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2010 2019
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 5 2010 2019
dbSNP: rs7206971
rs7206971
EFCAB13
17 47347749 intron variant G/A;T snv 0.47
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2010 2019
dbSNP: rs8017377
rs8017377
NYNRIN
14 24414681 missense variant G/A snv 0.37 0.34
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 5 2010 2019
dbSNP: rs10102164
rs10102164
RP1
8 54509054 upstream gene variant G/A snv 0.19
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2013 2019
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 4 2010 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 4 2010 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 4 2010 2019
dbSNP: rs2328223
rs2328223 		20 17865277 intergenic variant A/C;G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2013 2019
dbSNP: rs2642438
rs2642438
MTARC1
1 220796686 missense variant A/G snv 0.75 0.78
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 4 2017 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 4 2010 2019
dbSNP: rs6029526
rs6029526
TOP1
20 41043978 intron variant T/A snv 0.58
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2010 2019
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 4 2008 2019
dbSNP: rs9297994
rs9297994 		8 58479765 intergenic variant G/A snv 0.75
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 4 2015 2019
dbSNP: rs10038095
rs10038095
HMGCR
5 75341886 intron variant A/T snv 0.38
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs1041968
rs1041968
APOB
2 21009932 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 3 2012 2019
dbSNP: rs10889348
rs10889348
DOCK7
1 62612551 intron variant A/T snv 0.32
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2019
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 3 2010 2018
dbSNP: rs112374545
rs112374545
SMARCA4
19 11078223 intron variant C/T snv 0.11
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2019
dbSNP: rs1129555
rs1129555
GPAM
10 112150963 3 prime UTR variant A/G snv 0.71
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2018