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: rs112875651
rs112875651 		8 125494452 intron variant G/A snv 0.31
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs114067101
rs114067101 		6 32490183 intergenic variant A/G snv 6.1E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs114197570
rs114197570 		19 11085594 upstream gene variant C/T snv 3.3E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs11563251
rs11563251
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
2 233770738 3 prime UTR variant C/T snv 0.19
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2013 2017
dbSNP: rs11621792
rs11621792
NYNRIN
14 24402720 intron variant C/T snv 0.32
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs11648003
rs11648003
DHODH
16 72018449 intron variant A/G snv 0.18
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs1167998
rs1167998
DOCK7
1 62465961 intron variant C/A snv 0.57
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2012 2019
dbSNP: rs1169314
rs1169314
C12orf43
12 121005313 intron variant A/C;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs117753190
rs117753190
ABCA6
17 69140184 intron variant C/G snv 2.0E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2019 2019
dbSNP: rs11784833
rs11784833
GRINA ; PARP10
8 143989244 intron variant T/C snv 0.27
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs11870935
rs11870935
KPNB1
17 47655239 intron variant G/A;C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2019 2019
dbSNP: rs12117661
rs12117661 		1 55021673 downstream gene variant C/G snv 0.28
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs12721046
rs12721046
APOC1
19 44917997 intron variant G/A snv 0.11
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs13277801
rs13277801
UBXN2B
8 58440975 intron variant C/T snv 0.69
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2017 2018
dbSNP: rs1423527
rs1423527 		5 75306874 intergenic variant C/A snv 0.42
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs143020224
rs143020224
SMARCA4
19 11076648 intron variant C/G;T snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs1553318
rs1553318
HAVCR1
5 157052312 intron variant G/A;C snv 6.2E-03; 0.67
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2015 2018
dbSNP: rs17111684
rs17111684
USP24
1 55159875 intron variant C/T snv 3.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2013 2019
dbSNP: rs17242787
rs17242787
LDLR
19 11091784 intron variant T/A snv 6.4E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs17248720
rs17248720
LDLR
19 11087511 upstream gene variant C/T snv 0.16
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs17249141
rs17249141
LDLR
19 11089332 upstream gene variant C/T snv 3.3E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2013 2019
dbSNP: rs1730859
rs1730859 		1 107075085 intergenic variant G/A snv 0.75
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2018
dbSNP: rs17404153
rs17404153
DNAJC13
3 132444356 intron variant G/T snv 0.10
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2013 2018
dbSNP: rs174529
rs174529
MYRF ; TMEM258
11 61776489 intron variant T/C snv 0.34
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2019
dbSNP: rs17660708
rs17660708
SCAF4
21 31687518 intron variant T/C snv 3.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2018 2018