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: rs139604259
rs139604259
MACO1
1 25442718 intron variant -/A delins 0.58
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs66883945
rs66883945 		6 138996690 regulatory region variant -/C;CC delins
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs112959129
rs112959129
ABHD11-AS1
7 73733661 upstream gene variant -/CA delins
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs201445483
rs201445483
SMC6
2 17708820 intron variant -/GT delins 7.3E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs3832016
rs3832016
CELSR2
1 109275536 3 prime UTR variant -/T ins 0.74
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs68055275
rs68055275
ST3GAL4
11 126369248 intron variant -/T;TT delins
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34774090
rs34774090
SPC24
19 11143211 intron variant A/- delins 0.77
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs145955280
rs145955280
EVI5
1 92671973 intron variant A/-;AA;AAA delins
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2294261
rs2294261 		6 16108932 downstream gene variant A/C snv 0.65
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2017 2019
dbSNP: rs16991720
rs16991720
KCNE1
21 34484464 intron variant A/C snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17110429
rs17110429
PPARGC1B
5 149800331 intron variant A/C snv 3.5E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs174574
rs174574
FADS2
1.000 0.080 11 61832870 intron variant A/C snv 0.55
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1797912
rs1797912
PPARG
1.000 0.040 3 12428740 intron variant A/C snv 0.33
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1826361
rs1826361
AGTR1
3 148726941 intron variant A/C snv 0.13
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs201148465
rs201148465
H1-5
6 27867515 synonymous variant A/C snv 1.9E-04 1.7E-04
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2017 2017
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: rs2740488
rs2740488
ABCA1
0.827 0.120 9 104899461 intron variant A/C snv 0.29
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2819371
rs2819371
LMOD1
1 201946530 5 prime UTR variant A/C snv 0.92
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4665710
rs4665710 		2 20998163 downstream gene variant A/C snv 0.76
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs496800
rs496800 		1 234715469 intron variant A/C snv 0.65
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs557933
rs557933 		1 234717521 intron variant A/C snv 0.65
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs585967
rs585967 		1.000 0.040 2 21047682 upstream gene variant A/C snv 0.81
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs72653060
rs72653060
APOB
2 21034825 missense variant A/C snv 9.9E-05 5.0E-04
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs74551598
rs74551598
WHRN
9 114415286 intron variant A/C snv 0.20
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7873387
rs7873387
ABCA1
9 104833321 intron variant A/C snv 0.20
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018