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: rs117492019
rs117492019 		19 58170494 intron variant G/T snv 0.14
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2018
dbSNP: rs11806638
rs11806638
PCSK9
1 55052487 intron variant C/A;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs12713956
rs12713956
APOB
2 21018633 intron variant A/G snv 0.14
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs13392272
rs13392272 		2 20994618 downstream gene variant C/T snv 0.37
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2016 2019
dbSNP: rs174551
rs174551
FADS1 ; FADS2
11 61806212 5 prime UTR variant T/C snv 0.28
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2019
dbSNP: rs2169387
rs2169387
LOC157273
8 9323885 intron variant A/G snv 0.87
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2018
dbSNP: rs2238675
rs2238675
NCAN
19 19225799 intron variant C/T snv 9.4E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs2255141
rs2255141
GPAM
10 112174128 intron variant A/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2010 2018
dbSNP: rs2495477
rs2495477
PCSK9
1 55052794 splice region variant A/G snv 0.42 0.49
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs2618566
rs2618566 		20 17864040 intergenic variant G/C;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2018 2019
dbSNP: rs2710642
rs2710642
EHBP1
2 62922422 intron variant G/A snv 0.72
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2013 2018
dbSNP: rs314253
rs314253
DLG4
17 7188331 downstream gene variant T/C snv 0.37
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2013 2018
dbSNP: rs3208856
rs3208856
CBLC
19 44793549 missense variant C/G;T snv 2.4E-02 3.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2014 2019
dbSNP: rs3843482
rs3843482
HMGCR
5 75343434 intron variant T/G snv 0.35
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2019
dbSNP: rs4530754
rs4530754
CSNK1G3
5 123519722 intron variant G/A snv 0.61
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2013 2018
dbSNP: rs4942486
rs4942486
BRCA2
13 32379251 intron variant T/C snv 0.52
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2013 2018
dbSNP: rs563290
rs563290 		2 21065354 intergenic variant G/A snv 0.69
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2012 2019
dbSNP: rs10176901
rs10176901
ABCB11
2 168974151 intron variant G/A snv 0.57
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2019 2019
dbSNP: rs10199768
rs10199768
APOB
2 21021128 intron variant G/T snv 0.35
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2011 2012
dbSNP: rs10260606
rs10260606 		7 44544952 upstream gene variant G/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2018
dbSNP: rs10490626
rs10490626
LOC107985940
2 118078265 intergenic variant G/A snv 5.2E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2013 2018
dbSNP: rs10903129
rs10903129
MACO1
1 25442446 intron variant A/G snv 0.58
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs11164654
rs11164654 		1 92502755 regulatory region variant T/C snv 0.85
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs11207995
rs11207995
DOCK7
1 62583880 intron variant A/C;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs11220463
rs11220463
ST3GAL4
11 126378316 intron variant A/T snv 0.12
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2016 2018