rs11681663

Homo sapiens
G>A
PLCL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0463 (13840/29874,GnomAD)
A=0490 (14281/29118,TOPMED)
A=0450 (2253/5008,1000G)
G==0494 (1902/3854,ALSPAC)
A=0498 (1845/3708,TWINSUK)
chr2:198018228 (GRCh38.p7) (2q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.198018228G>A
GRCh37.p13 chr 2NC_000002.11:g.198882952G>A

Gene: PLCL1, phospholipase C like 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PLCL1 transcriptNM_006226.3:c.N/AIntron Variant
PLCL1 transcript variant X1XM_005246643.3:c.N/AIntron Variant
PLCL1 transcript variant X3XM_011511351.2:c.N/AIntron Variant
PLCL1 transcript variant X2XM_017004339.1:c.N/AIntron Variant
PLCL1 transcript variant X5XM_017004340.1:c.N/AIntron Variant
PLCL1 transcript variant X4XM_005246644.3:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.505A=0.495
1000GenomesAmericanSub694G=0.580A=0.420
1000GenomesEast AsianSub1008G=0.780A=0.220
1000GenomesEuropeSub1006G=0.454A=0.546
1000GenomesGlobalStudy-wide5008G=0.550A=0.450
1000GenomesSouth AsianSub978G=0.450A=0.550
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.494A=0.506
The Genome Aggregation DatabaseAfricanSub8696G=0.493A=0.507
The Genome Aggregation DatabaseAmericanSub838G=0.660A=0.340
The Genome Aggregation DatabaseEast AsianSub1610G=0.801A=0.199
The Genome Aggregation DatabaseEuropeSub18428G=0.529A=0.470
The Genome Aggregation DatabaseGlobalStudy-wide29874G=0.536A=0.463
The Genome Aggregation DatabaseOtherSub302G=0.480A=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.509A=0.490
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.502A=0.498
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs116816631.09E-05alcohol consumption23743675

eQTL of rs11681663 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:198882952SF3B1ENSG00000115524.11G>A7.6222e-4583137Caudate_basal_ganglia

meQTL of rs11681663 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 )
chr2198833824198833897E067-49055
chr2198837363198837407E067-45545
chr2198849914198850263E067-32689
chr2198859584198859710E067-23242
chr2198860594198860652E067-22300
chr2198861601198861700E067-21252
chr2198861897198861982E067-20970
chr2198862039198862206E067-20746
chr2198862262198862312E067-20640
chr2198863014198863054E067-19898
chr2198895311198895383E06712359
chr2198905291198905433E06722339
chr2198918578198918696E06735626
chr2198860594198860652E068-22300
chr2198861601198861700E068-21252
chr2198861897198861982E068-20970
chr2198869628198869727E068-13225
chr2198869765198869846E068-13106
chr2198894292198894356E06811340
chr2198905291198905433E06822339
chr2198905500198905702E06822548
chr2198919509198919737E06836557
chr2198919820198920207E06836868
chr2198920560198920776E06837608
chr2198922587198922655E06839635
chr2198930117198930438E06847165
chr2198836717198837189E069-45763
chr2198837363198837407E069-45545
chr2198849914198850263E069-32689
chr2198860594198860652E069-22300
chr2198861601198861700E069-21252
chr2198869765198869846E069-13106
chr2198870058198870605E069-12347
chr2198881929198882001E069-951
chr2198895156198895261E06912204
chr2198895311198895383E06912359
chr2198895428198895521E06912476
chr2198902752198902963E06919800
chr2198905291198905433E06922339
chr2198905500198905702E06922548
chr2198906774198907233E06923822
chr2198917564198917745E06934612
chr2198917974198918065E06935022
chr2198918578198918696E06935626
chr2198930117198930438E06947165
chr2198894809198894947E07011857
chr2198896952198897006E07014000
chr2198898314198898364E07015362
chr2198920560198920776E07037608
chr2198836417198836461E071-46491
chr2198836717198837189E071-45763
chr2198837363198837407E071-45545
chr2198838668198838761E071-44191
chr2198849914198850263E071-32689
chr2198858638198858821E071-24131
chr2198860594198860652E071-22300
chr2198861601198861700E071-21252
chr2198861897198861982E071-20970
chr2198862039198862206E071-20746
chr2198862262198862312E071-20640
chr2198869003198869098E071-13854
chr2198869628198869727E071-13225
chr2198869765198869846E071-13106
chr2198894292198894356E07111340
chr2198894442198894522E07111490
chr2198894809198894947E07111857
chr2198902752198902963E07119800
chr2198903313198903359E07120361
chr2198905291198905433E07122339
chr2198905500198905702E07122548
chr2198906774198907233E07123822
chr2198917564198917745E07134612
chr2198917974198918065E07135022
chr2198918578198918696E07135626
chr2198919150198919308E07136198
chr2198919509198919737E07136557
chr2198919820198920207E07136868
chr2198920560198920776E07137608
chr2198925168198925266E07142216
chr2198930117198930438E07147165
chr2198931481198931548E07148529
chr2198836717198837189E072-45763
chr2198837363198837407E072-45545
chr2198838668198838761E072-44191
chr2198849914198850263E072-32689
chr2198860594198860652E072-22300
chr2198861601198861700E072-21252
chr2198861897198861982E072-20970
chr2198862039198862206E072-20746
chr2198862262198862312E072-20640
chr2198870058198870605E072-12347
chr2198881929198882001E072-951
chr2198895428198895521E07212476
chr2198902752198902963E07219800
chr2198905291198905433E07222339
chr2198905500198905702E07222548
chr2198914419198914505E07231467
chr2198917974198918065E07235022
chr2198918578198918696E07235626
chr2198919150198919308E07236198
chr2198919509198919737E07236557
chr2198919820198920207E07236868
chr2198920560198920776E07237608
chr2198922587198922655E07239635
chr2198925168198925266E07242216
chr2198860594198860652E073-22300
chr2198861601198861700E073-21252
chr2198869628198869727E073-13225
chr2198869765198869846E073-13106
chr2198870058198870605E073-12347
chr2198918578198918696E07335626
chr2198919150198919308E07336198
chr2198919509198919737E07336557
chr2198849914198850263E074-32689
chr2198860594198860652E074-22300
chr2198861601198861700E074-21252
chr2198861897198861982E074-20970
chr2198862039198862206E074-20746
chr2198862262198862312E074-20640
chr2198863014198863054E074-19898
chr2198868844198868923E074-14029
chr2198869003198869098E074-13854
chr2198869628198869727E074-13225
chr2198869765198869846E074-13106
chr2198881929198882001E074-951
chr2198894292198894356E07411340
chr2198894442198894522E07411490
chr2198894809198894947E07411857
chr2198895156198895261E07412204
chr2198895311198895383E07412359
chr2198902752198902963E07419800
chr2198905291198905433E07422339
chr2198905500198905702E07422548
chr2198906774198907233E07423822
chr2198917564198917745E07434612
chr2198917974198918065E07435022
chr2198918578198918696E07435626
chr2198919150198919308E07436198
chr2198919509198919737E07436557
chr2198919820198920207E07436868
chr2198920560198920776E07437608
chr2198930117198930438E07447165
chr2198931481198931548E07448529
chr2198849914198850263E082-32689