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: 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
dbSNP: rs4560142
rs4560142 		2 21160845 intergenic variant C/T snv 0.75
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2008 2008
dbSNP: rs4591370
rs4591370 		2 21160870 intergenic variant A/G snv 0.75
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2008 2008
dbSNP: rs4605275
rs4605275 		1.000 0.080 19 44835236 intergenic variant T/C snv 0.69
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2008 2008
dbSNP: rs478442
rs478442 		0.851 0.120 2 21176344 intergenic variant G/C;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2008 2008
dbSNP: rs488507
rs488507 		2 21170817 intergenic variant G/T snv 0.78
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2008 2008
dbSNP: rs506585
rs506585 		2 21174310 intergenic variant G/A;C;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2008 2008
dbSNP: rs538928
rs538928 		2 21166147 intergenic variant A/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2008 2008
dbSNP: rs576203
rs576203 		2 21170751 intergenic variant A/G snv 0.76
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2008 2008
dbSNP: rs6589566
rs6589566
ZPR1
0.882 0.080 11 116781707 intron variant G/A;C;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2008 2008
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 7 2009 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 7 2009 2019
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: 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: rs3846662
rs3846662
HMGCR
0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2009 2019
dbSNP: rs6544713
rs6544713
ABCG8
0.925 0.040 2 43846742 non coding transcript exon variant T/C snv 0.75
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2009 2019
dbSNP: rs1501908
rs1501908 		1.000 0.040 5 156971158 intergenic variant G/A;C;T snv
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: rs3846663
rs3846663
HMGCR ; CERT1
0.882 0.120 5 75359901 intron variant C/T snv 0.35
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2009 2019
dbSNP: rs174570
rs174570
FADS2
0.882 0.200 11 61829740 intron variant C/T snv 0.15
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2009 2019
dbSNP: rs12272004
rs12272004 		1.000 0.040 11 116733008 TF binding site variant C/A snv 9.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2159324
rs2159324
MARK4 ; BLOC1S3
19 45192480 intron variant T/C snv 0.36
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2650000
rs2650000
HNF1A-AS1
0.851 0.200 12 120951159 intron variant A/C snv 0.70
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2009 2009
dbSNP: rs4767631
rs4767631
KSR2
12 117873938 intron variant G/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2009 2009