rs11683222

Homo sapiens
C>G
PLCL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0461 (13814/29904,GnomAD)
G=0488 (14220/29118,TOPMED)
G=0449 (2248/5008,1000G)
C==0494 (1902/3854,ALSPAC)
G=0496 (1841/3708,TWINSUK)
chr2:198019304 (GRCh38.p7) (2q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
143 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.198019304C>G
GRCh37.p13 chr 2NC_000002.11:g.198884028C>G

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
1000GenomesAfricanSub1322C=0.508G=0.492
1000GenomesAmericanSub694C=0.580G=0.420
1000GenomesEast AsianSub1008C=0.780G=0.220
1000GenomesEuropeSub1006C=0.454G=0.546
1000GenomesGlobalStudy-wide5008C=0.551G=0.449
1000GenomesSouth AsianSub978C=0.450G=0.550
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.494G=0.506
The Genome Aggregation DatabaseAfricanSub8698C=0.498G=0.502
The Genome Aggregation DatabaseAmericanSub838C=0.660G=0.340
The Genome Aggregation DatabaseEast AsianSub1612C=0.801G=0.199
The Genome Aggregation DatabaseEuropeSub18454C=0.529G=0.470
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.538G=0.461
The Genome Aggregation DatabaseOtherSub302C=0.480G=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.511G=0.488
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.504G=0.496
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
rs116832221.16E-05alcohol consumption23743675

eQTL of rs11683222 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:198884028SF3B1ENSG00000115524.11C>G7.6222e-4584213Caudate_basal_ganglia

meQTL of rs11683222 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 )
chr2198837363198837407E067-46621
chr2198849914198850263E067-33765
chr2198859584198859710E067-24318
chr2198860594198860652E067-23376
chr2198861601198861700E067-22328
chr2198861897198861982E067-22046
chr2198862039198862206E067-21822
chr2198862262198862312E067-21716
chr2198863014198863054E067-20974
chr2198895311198895383E06711283
chr2198905291198905433E06721263
chr2198918578198918696E06734550
chr2198860594198860652E068-23376
chr2198861601198861700E068-22328
chr2198861897198861982E068-22046
chr2198869628198869727E068-14301
chr2198869765198869846E068-14182
chr2198894292198894356E06810264
chr2198905291198905433E06821263
chr2198905500198905702E06821472
chr2198919509198919737E06835481
chr2198919820198920207E06835792
chr2198920560198920776E06836532
chr2198922587198922655E06838559
chr2198930117198930438E06846089
chr2198836717198837189E069-46839
chr2198837363198837407E069-46621
chr2198849914198850263E069-33765
chr2198860594198860652E069-23376
chr2198861601198861700E069-22328
chr2198869765198869846E069-14182
chr2198870058198870605E069-13423
chr2198881929198882001E069-2027
chr2198895156198895261E06911128
chr2198895311198895383E06911283
chr2198895428198895521E06911400
chr2198902752198902963E06918724
chr2198905291198905433E06921263
chr2198905500198905702E06921472
chr2198906774198907233E06922746
chr2198917564198917745E06933536
chr2198917974198918065E06933946
chr2198918578198918696E06934550
chr2198930117198930438E06946089
chr2198894809198894947E07010781
chr2198896952198897006E07012924
chr2198898314198898364E07014286
chr2198920560198920776E07036532
chr2198836417198836461E071-47567
chr2198836717198837189E071-46839
chr2198837363198837407E071-46621
chr2198838668198838761E071-45267
chr2198849914198850263E071-33765
chr2198858638198858821E071-25207
chr2198860594198860652E071-23376
chr2198861601198861700E071-22328
chr2198861897198861982E071-22046
chr2198862039198862206E071-21822
chr2198862262198862312E071-21716
chr2198869003198869098E071-14930
chr2198869628198869727E071-14301
chr2198869765198869846E071-14182
chr2198894292198894356E07110264
chr2198894442198894522E07110414
chr2198894809198894947E07110781
chr2198902752198902963E07118724
chr2198903313198903359E07119285
chr2198905291198905433E07121263
chr2198905500198905702E07121472
chr2198906774198907233E07122746
chr2198917564198917745E07133536
chr2198917974198918065E07133946
chr2198918578198918696E07134550
chr2198919150198919308E07135122
chr2198919509198919737E07135481
chr2198919820198920207E07135792
chr2198920560198920776E07136532
chr2198925168198925266E07141140
chr2198930117198930438E07146089
chr2198931481198931548E07147453
chr2198836717198837189E072-46839
chr2198837363198837407E072-46621
chr2198838668198838761E072-45267
chr2198849914198850263E072-33765
chr2198860594198860652E072-23376
chr2198861601198861700E072-22328
chr2198861897198861982E072-22046
chr2198862039198862206E072-21822
chr2198862262198862312E072-21716
chr2198870058198870605E072-13423
chr2198881929198882001E072-2027
chr2198895428198895521E07211400
chr2198902752198902963E07218724
chr2198905291198905433E07221263
chr2198905500198905702E07221472
chr2198914419198914505E07230391
chr2198917974198918065E07233946
chr2198918578198918696E07234550
chr2198919150198919308E07235122
chr2198919509198919737E07235481
chr2198919820198920207E07235792
chr2198920560198920776E07236532
chr2198922587198922655E07238559
chr2198925168198925266E07241140
chr2198860594198860652E073-23376
chr2198861601198861700E073-22328
chr2198869628198869727E073-14301
chr2198869765198869846E073-14182
chr2198870058198870605E073-13423
chr2198918578198918696E07334550
chr2198919150198919308E07335122
chr2198919509198919737E07335481
chr2198849914198850263E074-33765
chr2198860594198860652E074-23376
chr2198861601198861700E074-22328
chr2198861897198861982E074-22046
chr2198862039198862206E074-21822
chr2198862262198862312E074-21716
chr2198863014198863054E074-20974
chr2198868844198868923E074-15105
chr2198869003198869098E074-14930
chr2198869628198869727E074-14301
chr2198869765198869846E074-14182
chr2198881929198882001E074-2027
chr2198894292198894356E07410264
chr2198894442198894522E07410414
chr2198894809198894947E07410781
chr2198895156198895261E07411128
chr2198895311198895383E07411283
chr2198902752198902963E07418724
chr2198905291198905433E07421263
chr2198905500198905702E07421472
chr2198906774198907233E07422746
chr2198917564198917745E07433536
chr2198917974198918065E07433946
chr2198918578198918696E07434550
chr2198919150198919308E07435122
chr2198919509198919737E07435481
chr2198919820198920207E07435792
chr2198920560198920776E07436532
chr2198930117198930438E07446089
chr2198931481198931548E07447453
chr2198849914198850263E082-33765