Source: GWASDB

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: 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 4 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 3 2009 2019
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 3 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 3 2010 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 2 2008 2018
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 2 2012 2019
dbSNP: rs283813
rs283813
NECTIN2
1.000 0.080 19 44885917 intron variant T/A snv 0.11 0.16
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2012 2012
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 2 2008 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 2 2008 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 2 2010 2019
dbSNP: rs11206517
rs11206517
PCSK9
1.000 0.120 1 55060755 intron variant T/C;G snv
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11570255
rs11570255
EDN3
1.000 20 59300861 missense variant G/A;T snv 3.3E-03; 2.9E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
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 1 2013 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 1 2013 2017
dbSNP: rs12721613
rs12721613
NR1I2
1.000 0.080 3 119807329 missense variant C/T snv 9.8E-03 3.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
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 1 2013 2017
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 1 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 1 2012 2019
dbSNP: rs17238484
rs17238484
HMGCR
1.000 0.080 5 75352671 intron variant G/T snv 0.22
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs174541
rs174541
FADS2
1.000 0.080 11 61798436 intron variant T/C snv 0.29
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2011 2011
dbSNP: rs17646665
rs17646665
SORT1
1.000 0.080 1 109369429 intron variant A/G snv 5.8E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
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 1 2010 2018
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: rs2678379
rs2678379
APOB
1.000 0.080 2 21003688 intron variant A/G snv 0.76
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 1 2012 2018
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 1 2010 2019