rs3820198

Homo sapiens
A>C
LRP8 : Missense Variant
LOC105378732 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0412 (49796/120846,ExAC)
A==0494 (14773/29862,GnomAD)
A==0427 (12452/29118,TOPMED)
C=0482 (6278/13006,GO-ESP)
A==0450 (2252/5008,1000G)
C=0353 (1359/3854,ALSPAC)
C=0349 (1293/3708,TWINSUK)
chr1:53326979 (GRCh38.p7) (1p32.3)
AD
GWASdb2
7   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.53326979A>C
GRCh37.p13 chr 1NC_000001.10:g.53792651A>C
LRP8 RefSeqGeneNG_011517.2:g.6171T>G

Gene: LRP8, LDL receptor related protein 8(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LRP8 transcript variant 1NM_004631.4:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform 1 precursorNP_004622.2:p.Asp...NP_004622.2:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant 4NM_001018054.2:c....NM_001018054.2:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform 4 precursorNP_001018064.1:p....NP_001018064.1:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant 2NM_033300.3:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform 2 precursorNP_150643.2:p.Asp...NP_150643.2:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant 3NM_017522.4:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform 3 precursorNP_059992.3:p.Asp...NP_059992.3:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant X11XM_017002267.1:c.N/A5 Prime UTR Variant
LRP8 transcript variant X12XM_017002268.1:c.N/A5 Prime UTR Variant
LRP8 transcript variant X1XM_005271173.3:c....XM_005271173.3:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform X1XP_005271230.1:p....XP_005271230.1:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant X2XM_011542094.2:c....XM_011542094.2:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform X2XP_011540396.1:p....XP_011540396.1:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant X3XM_017002265.1:c....XM_017002265.1:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform X3XP_016857754.1:p....XP_016857754.1:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant X4XM_006710881.3:c....XM_006710881.3:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform X4XP_006710944.1:p....XP_006710944.1:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant X5XM_006710882.3:c....XM_006710882.3:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform X5XP_006710945.1:p....XP_006710945.1:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant X6XM_005271174.3:c....XM_005271174.3:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform X6XP_005271231.1:p....XP_005271231.1:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant X7XM_017002266.1:c....XM_017002266.1:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform X7XP_016857755.1:p....XP_016857755.1:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant X8XM_005271175.3:c....XM_005271175.3:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform X8XP_005271232.1:p....XP_005271232.1:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant X9XM_011542095.2:c....XM_011542095.2:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform X9XP_011540397.1:p....XP_011540397.1:p.Asp46GluD [Asp]> E [Glu]Missense Variant
LRP8 transcript variant X10XM_011542096.2:c....XM_011542096.2:c.138T>GD [GAT]> E [GAG]Coding Sequence Variant
low-density lipoprotein receptor-related protein 8 isoform X10XP_011540398.1:p....XP_011540398.1:p.Asp46GluD [Asp]> E [Glu]Missense Variant

Gene: LOC105378732, uncharacterized LOC105378732(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
LINC01771 transcriptNR_131923.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
PMID Title Author Journal
21316997Investigation of LRP8 gene in 1p31 QTL linked to LDL peak particle diameter in the Quebec family study.Dolley GMol Genet Metab
22911757Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.Liu XPLoS One
17847002An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction.Shen GQAm J Hum Genet
18854859Fine-mapping and candidate gene investigation within the PARK10 locus.Haugarvoll KEur J Hum Genet
26985771Multiple genetic imaging study of the association between cholesterol metabolism and brain functional alterations in individuals with risk factors for Alzheimer's disease.Bai FOncotarget
22096494A novel, functional and replicable risk gene region for alcohol dependence identified by genome-wide association study.Zuo LPLoS One
22889673Association analysis of LRP8 SNP rs3820198 and rs5174 with Parkinson's disease in Han Chinese population.Chen KNeurol Res

P-Value

SNP ID p-value Traits Study
rs38201982.7E-05alcohol dependence22096494

eQTL of rs3820198 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs3820198 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr15375303553753142E067-39509
chr15375376653754872E067-37779
chr15375852753758646E067-34005
chr15375865253758706E067-33945
chr15375872953758809E067-33842
chr15375890953759118E067-33533
chr15375969153760121E067-32530
chr15376012953760190E067-32461
chr15376029053760522E067-32129
chr15376109553761215E067-31436
chr15376141753761498E067-31153
chr15376155253761666E067-30985
chr15376939153770070E067-22581
chr15377012553770185E067-22466
chr15377153253771584E067-21067
chr15377197753772076E067-20575
chr15377420153774540E067-18111
chr15377666853777368E067-15283
chr15377739553777900E067-14751
chr15378232053782430E067-10221
chr15378246553783410E067-9241
chr15378394653784088E067-8563
chr15378433453784537E067-8114
chr15379055553790651E067-2000
chr15375842053758513E068-34138
chr15375852753758646E068-34005
chr15375865253758706E068-33945
chr15375872953758809E068-33842
chr15375890953759118E068-33533
chr15375969153760121E068-32530
chr15376012953760190E068-32461
chr15376029053760522E068-32129
chr15376168253761801E068-30850
chr15376188353761933E068-30718
chr15376197353762028E068-30623
chr15376204853762430E068-30221
chr15376903953769330E068-23321
chr15376939153770070E068-22581
chr15377012553770185E068-22466
chr15377153253771584E068-21067
chr15377197753772076E068-20575
chr15378143753781538E068-11113
chr15378165953782099E068-10552
chr15378210953782261E068-10390
chr15378232053782430E068-10221
chr15378246553783410E068-9241
chr15378884953788940E068-3711
chr15379055553790651E068-2000
chr15375376653754872E069-37779
chr15375842053758513E069-34138
chr15375852753758646E069-34005
chr15375865253758706E069-33945
chr15375872953758809E069-33842
chr15375890953759118E069-33533
chr15375969153760121E069-32530
chr15376012953760190E069-32461
chr15376029053760522E069-32129
chr15376109553761215E069-31436
chr15376141753761498E069-31153
chr15376155253761666E069-30985
chr15376168253761801E069-30850
chr15376188353761933E069-30718
chr15376197353762028E069-30623
chr15376204853762430E069-30221
chr15376400953764055E069-28596
chr15376409953764272E069-28379
chr15376443953764558E069-28093
chr15376484953764899E069-27752
chr15376507053765230E069-27421
chr15376903953769330E069-23321
chr15376939153770070E069-22581
chr15377012553770185E069-22466
chr15377153253771584E069-21067
chr15377305853773164E069-19487
chr15377323453773442E069-19209
chr15377666853777368E069-15283
chr15377739553777900E069-14751
chr15378165953782099E069-10552
chr15378210953782261E069-10390
chr15378232053782430E069-10221
chr15378394653784088E069-8563
chr15378712353787310E069-5341
chr15378737153787596E069-5055
chr15379055553790651E069-2000
chr15374673553746847E070-45804
chr15374689453747315E070-45336
chr15375039953750509E070-42142
chr15375277953752904E070-39747
chr15375303553753142E070-39509
chr15375354553753600E070-39051
chr15375512053755170E070-37481
chr15375528453755343E070-37308
chr15375572853755778E070-36873
chr15375842053758513E070-34138
chr15375852753758646E070-34005
chr15375865253758706E070-33945
chr15375872953758809E070-33842
chr15375890953759118E070-33533
chr15375969153760121E070-32530
chr15376012953760190E070-32461
chr15376029053760522E070-32129
chr15376109553761215E070-31436
chr15376141753761498E070-31153
chr15376155253761666E070-30985
chr15376168253761801E070-30850
chr15376188353761933E070-30718
chr15376197353762028E070-30623
chr15376204853762430E070-30221
chr15376292553763092E070-29559
chr15376400953764055E070-28596
chr15376409953764272E070-28379
chr15376443953764558E070-28093
chr15376484953764899E070-27752
chr15376507053765230E070-27421
chr15376903953769330E070-23321
chr15377153253771584E070-21067
chr15377197753772076E070-20575
chr15377305853773164E070-19487
chr15377323453773442E070-19209
chr15377420153774540E070-18111
chr15377610753776169E070-16482
chr15377657853776628E070-16023
chr15377666853777368E070-15283
chr15377739553777900E070-14751
chr15377852053778620E070-14031
chr15377925953779504E070-13147
chr15378080453780991E070-11660
chr15378108453781144E070-11507
chr15378143753781538E070-11113
chr15378165953782099E070-10552
chr15378210953782261E070-10390
chr15378232053782430E070-10221
chr15378246553783410E070-9241
chr15378394653784088E070-8563
chr15378712353787310E070-5341
chr15378737153787596E070-5055
chr15378776953787889E070-4762
chr15378795753788268E070-4383
chr15378863353788696E070-3955
chr15378884953788940E070-3711
chr15383406753834568E07041416
chr15384149653841635E07048845
chr15384171053842171E07049059
chr15384252853842578E07049877
chr15375277953752904E071-39747
chr15375303553753142E071-39509
chr15375354553753600E071-39051
chr15375376653754872E071-37779
chr15375852753758646E071-34005
chr15375865253758706E071-33945
chr15375872953758809E071-33842
chr15375890953759118E071-33533
chr15375969153760121E071-32530
chr15376012953760190E071-32461
chr15376029053760522E071-32129
chr15376109553761215E071-31436
chr15376141753761498E071-31153
chr15376155253761666E071-30985
chr15376168253761801E071-30850
chr15376188353761933E071-30718
chr15376197353762028E071-30623
chr15376204853762430E071-30221
chr15376903953769330E071-23321
chr15376939153770070E071-22581
chr15377012553770185E071-22466
chr15377197753772076E071-20575
chr15377666853777368E071-15283
chr15377739553777900E071-14751
chr15378080453780991E071-11660
chr15378108453781144E071-11507
chr15378143753781538E071-11113
chr15378165953782099E071-10552
chr15378210953782261E071-10390
chr15378232053782430E071-10221
chr15378246553783410E071-9241
chr15383406753834568E07141416
chr15375277953752904E072-39747
chr15375303553753142E072-39509
chr15375354553753600E072-39051
chr15375376653754872E072-37779
chr15375842053758513E072-34138
chr15375852753758646E072-34005
chr15375865253758706E072-33945
chr15375872953758809E072-33842
chr15375890953759118E072-33533
chr15375969153760121E072-32530
chr15376012953760190E072-32461
chr15376029053760522E072-32129
chr15376109553761215E072-31436
chr15376141753761498E072-31153
chr15376155253761666E072-30985
chr15376168253761801E072-30850
chr15376188353761933E072-30718
chr15376197353762028E072-30623
chr15376204853762430E072-30221
chr15376292553763092E072-29559
chr15376400953764055E072-28596
chr15376409953764272E072-28379
chr15376443953764558E072-28093
chr15376484953764899E072-27752
chr15376903953769330E072-23321
chr15376939153770070E072-22581
chr15377012553770185E072-22466
chr15377153253771584E072-21067
chr15377323453773442E072-19209
chr15377739553777900E072-14751
chr15377852053778620E072-14031
chr15378246553783410E072-9241
chr15379055553790651E072-2000
chr15375303553753142E073-39509
chr15375354553753600E073-39051
chr15375376653754872E073-37779
chr15375842053758513E073-34138
chr15375852753758646E073-34005
chr15375865253758706E073-33945
chr15375872953758809E073-33842
chr15375890953759118E073-33533
chr15375969153760121E073-32530
chr15376012953760190E073-32461
chr15376029053760522E073-32129
chr15376109553761215E073-31436
chr15376141753761498E073-31153
chr15376155253761666E073-30985
chr15376168253761801E073-30850
chr15376188353761933E073-30718
chr15376197353762028E073-30623
chr15376903953769330E073-23321
chr15376939153770070E073-22581
chr15377012553770185E073-22466
chr15377153253771584E073-21067
chr15377197753772076E073-20575
chr15377305853773164E073-19487
chr15377739553777900E073-14751
chr15378165953782099E073-10552
chr15378210953782261E073-10390
chr15378232053782430E073-10221
chr15378246553783410E073-9241
chr15378712353787310E073-5341
chr15378737153787596E073-5055
chr15378776953787889E073-4762
chr15378795753788268E073-4383
chr15378863353788696E073-3955
chr15378884953788940E073-3711
chr15379055553790651E073-2000
chr15383406753834568E07341416
chr15384149653841635E07348845
chr15384171053842171E07349059
chr15375852753758646E074-34005
chr15375865253758706E074-33945
chr15375872953758809E074-33842
chr15375890953759118E074-33533
chr15376012953760190E074-32461
chr15376109553761215E074-31436
chr15376400953764055E074-28596
chr15376409953764272E074-28379
chr15376443953764558E074-28093
chr15376939153770070E074-22581
chr15377012553770185E074-22466
chr15377197753772076E074-20575
chr15377739553777900E074-14751
chr15379055553790651E074-2000
chr15383406753834568E07441416
chr15374495753745467E081-47184
chr15374561353745996E081-46655
chr15374600453746056E081-46595
chr15374673553746847E081-45804
chr15374689453747315E081-45336
chr15375039953750509E081-42142
chr15375214053752356E081-40295
chr15375277953752904E081-39747
chr15375303553753142E081-39509
chr15375354553753600E081-39051
chr15375376653754872E081-37779
chr15375512053755170E081-37481
chr15375528453755343E081-37308
chr15375572853755778E081-36873
chr15375842053758513E081-34138
chr15375852753758646E081-34005
chr15375865253758706E081-33945
chr15375872953758809E081-33842
chr15375890953759118E081-33533
chr15375969153760121E081-32530
chr15376012953760190E081-32461
chr15376029053760522E081-32129
chr15376109553761215E081-31436
chr15376141753761498E081-31153
chr15376155253761666E081-30985
chr15376168253761801E081-30850
chr15376188353761933E081-30718
chr15376197353762028E081-30623
chr15376204853762430E081-30221
chr15376292553763092E081-29559
chr15376400953764055E081-28596
chr15376409953764272E081-28379
chr15376443953764558E081-28093
chr15376903953769330E081-23321
chr15376939153770070E081-22581
chr15377012553770185E081-22466
chr15377153253771584E081-21067
chr15377197753772076E081-20575
chr15377305853773164E081-19487
chr15377323453773442E081-19209
chr15377420153774540E081-18111
chr15377610753776169E081-16482
chr15377657853776628E081-16023
chr15377666853777368E081-15283
chr15377739553777900E081-14751
chr15377852053778620E081-14031
chr15377925953779504E081-13147
chr15378080453780991E081-11660
chr15378108453781144E081-11507
chr15378143753781538E081-11113
chr15378165953782099E081-10552
chr15378210953782261E081-10390
chr15378232053782430E081-10221
chr15378246553783410E081-9241
chr15378394653784088E081-8563
chr15378433453784537E081-8114
chr15378712353787310E081-5341
chr15378737153787596E081-5055
chr15378776953787889E081-4762
chr15378795753788268E081-4383
chr15378863353788696E081-3955
chr15378884953788940E081-3711
chr15379017953790265E081-2386
chr15379055553790651E081-2000
chr15383406753834568E08141416
chr15383468753834976E08142036
chr15384111053841226E08148459
chr15384123053841319E08148579
chr15384149653841635E08148845
chr15384171053842171E08149059
chr15384252853842578E08149877
chr15374561353745996E082-46655
chr15374600453746056E082-46595
chr15374673553746847E082-45804
chr15374689453747315E082-45336
chr15375354553753600E082-39051
chr15375512053755170E082-37481
chr15375528453755343E082-37308
chr15375572853755778E082-36873
chr15375842053758513E082-34138
chr15375852753758646E082-34005
chr15375865253758706E082-33945
chr15375872953758809E082-33842
chr15375890953759118E082-33533
chr15375969153760121E082-32530
chr15376012953760190E082-32461
chr15376029053760522E082-32129
chr15376109553761215E082-31436
chr15376141753761498E082-31153
chr15376155253761666E082-30985
chr15376168253761801E082-30850
chr15376197353762028E082-30623
chr15376204853762430E082-30221
chr15376292553763092E082-29559
chr15376400953764055E082-28596
chr15376409953764272E082-28379
chr15376443953764558E082-28093
chr15376484953764899E082-27752
chr15376507053765230E082-27421
chr15376566553765784E082-26867
chr15377012553770185E082-22466
chr15377153253771584E082-21067
chr15377197753772076E082-20575
chr15377420153774540E082-18111
chr15377610753776169E082-16482
chr15377852053778620E082-14031
chr15377925953779504E082-13147
chr15378080453780991E082-11660
chr15378108453781144E082-11507
chr15378143753781538E082-11113
chr15378394653784088E082-8563
chr15378433453784537E082-8114
chr15384149653841635E08248845
chr15384171053842171E08249059










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr15379083753793584E0670
chr15379366553794164E0671014
chr15379083753793584E0680
chr15379366553794164E0681014
chr15379083753793584E0690
chr15379366553794164E0691014
chr15379083753793584E0700
chr15379366553794164E0701014
chr15379083753793584E0710
chr15379366553794164E0711014
chr15379083753793584E0720
chr15379366553794164E0721014
chr15379083753793584E0730
chr15379366553794164E0731014
chr15379083753793584E0740
chr15379366553794164E0741014
chr15379083753793584E0820
chr15379366553794164E0821014