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: 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 8 2010 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 7 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 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: 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: rs12721109
rs12721109
APOC4 ; APOC4-APOC2
1.000 0.080 19 44943964 intron variant G/A snv 1.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 4 2012 2019
dbSNP: rs507666
rs507666
ABO
1.000 0.040 9 133273983 intron variant A/G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 4 2013 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 3 2008 2018
dbSNP: rs1160985
rs1160985
TOMM40
1.000 0.080 19 44900155 intron variant C/T snv 0.52
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2013 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: rs1531517
rs1531517 		1.000 0.080 19 44738916 intergenic variant G/A snv 0.11
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs2954021
rs2954021 		1.000 0.040 8 125469835 intron variant A/G snv 0.54
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2010 2019
dbSNP: rs3780181
rs3780181
VLDLR ; VLDLR-AS1
1.000 0.320 9 2640759 intron variant A/G snv 0.11
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2013 2018
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 3 2008 2018
dbSNP: rs704
rs704
VTN ; SARM1
1.000 0.040 17 28367840 missense variant G/A snv 0.51 0.51
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2017 2018
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 3 2008 2019
dbSNP: rs77542162
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2018
dbSNP: rs8106922
rs8106922
TOMM40
1.000 0.080 19 44898409 intron variant A/G snv 0.36
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs1038026
rs1038026
TOMM40
1.000 0.080 19 44901805 3 prime UTR variant A/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs1250229
rs1250229 		1.000 0.040 2 215439661 upstream gene variant T/C snv 0.77
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2013 2017
dbSNP: rs12748152
rs12748152 		1.000 0.120 1 26811902 upstream gene variant C/T snv 5.7E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2013 2017
dbSNP: rs174554
rs174554
FADS1 ; FADS2
1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs2001846
rs2001846 		1.000 0.080 8 125466208 upstream gene variant T/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2018
dbSNP: rs2126259
rs2126259
LOC157273
1.000 8 9327636 intron variant T/C snv 0.87
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2010 2018
dbSNP: rs2278426
rs2278426
ANGPTL8 ; DOCK6
1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019