rs34692727

Homo sapiens
C>G / C>T
PLCL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0467 (13977/29900,GnomAD)
T=0497 (14498/29118,TOPMED)
T=0454 (2274/5008,1000G)
C==0494 (1903/3854,ALSPAC)
T=0497 (1842/3708,TWINSUK)
chr2:198018789 (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.198018789C>G
GRCh38.p7 chr 2NC_000002.12:g.198018789C>T
GRCh37.p13 chr 2NC_000002.11:g.198883513C>G
GRCh37.p13 chr 2NC_000002.11:g.198883513C>T

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=0.491T=0.509
1000GenomesAmericanSub694C=0.570T=0.430
1000GenomesEast AsianSub1008C=0.780T=0.220
1000GenomesEuropeSub1006C=0.454T=0.546
1000GenomesGlobalStudy-wide5008C=0.546T=0.454
1000GenomesSouth AsianSub978C=0.450T=0.550
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.494T=0.506
The Genome Aggregation DatabaseAfricanSub8698C=0.479T=0.521
The Genome Aggregation DatabaseAmericanSub836C=0.650T=0.350
The Genome Aggregation DatabaseEast AsianSub1616C=0.803T=0.197
The Genome Aggregation DatabaseEuropeSub18450C=0.529T=0.470
The Genome Aggregation DatabaseGlobalStudy-wide29900C=0.532T=0.467
The Genome Aggregation DatabaseOtherSub300C=0.480T=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.502T=0.497
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.503T=0.497
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
rs346927271.13E-05alcohol consumption23743675

eQTL of rs34692727 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:198883513SF3B1ENSG00000115524.11C>T7.6222e-4583698Caudate_basal_ganglia

meQTL of rs34692727 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 )
chr2198859584198859710E067-40653
chr2198860594198860652E067-39711
chr2198861601198861700E067-38663
chr2198861897198861982E067-38381
chr2198862039198862206E067-38157
chr2198862262198862312E067-38051
chr2198863014198863054E067-37309
chr2198895311198895383E067-4980
chr2198905291198905433E0674928
chr2198918578198918696E06718215
chr2198945273198945529E06744910
chr2198860594198860652E068-39711
chr2198861601198861700E068-38663
chr2198861897198861982E068-38381
chr2198869628198869727E068-30636
chr2198869765198869846E068-30517
chr2198894292198894356E068-6007
chr2198905291198905433E0684928
chr2198905500198905702E0685137
chr2198919509198919737E06819146
chr2198919820198920207E06819457
chr2198920560198920776E06820197
chr2198922587198922655E06822224
chr2198930117198930438E06829754
chr2198945273198945529E06844910
chr2198860594198860652E069-39711
chr2198861601198861700E069-38663
chr2198869765198869846E069-30517
chr2198870058198870605E069-29758
chr2198881929198882001E069-18362
chr2198895156198895261E069-5102
chr2198895311198895383E069-4980
chr2198895428198895521E069-4842
chr2198902752198902963E0692389
chr2198905291198905433E0694928
chr2198905500198905702E0695137
chr2198906774198907233E0696411
chr2198917564198917745E06917201
chr2198917974198918065E06917611
chr2198918578198918696E06918215
chr2198930117198930438E06929754
chr2198945273198945529E06944910
chr2198894809198894947E070-5416
chr2198896952198897006E070-3357
chr2198898314198898364E070-1999
chr2198920560198920776E07020197
chr2198858638198858821E071-41542
chr2198860594198860652E071-39711
chr2198861601198861700E071-38663
chr2198861897198861982E071-38381
chr2198862039198862206E071-38157
chr2198862262198862312E071-38051
chr2198869003198869098E071-31265
chr2198869628198869727E071-30636
chr2198869765198869846E071-30517
chr2198894292198894356E071-6007
chr2198894442198894522E071-5841
chr2198894809198894947E071-5416
chr2198902752198902963E0712389
chr2198903313198903359E0712950
chr2198905291198905433E0714928
chr2198905500198905702E0715137
chr2198906774198907233E0716411
chr2198917564198917745E07117201
chr2198917974198918065E07117611
chr2198918578198918696E07118215
chr2198919150198919308E07118787
chr2198919509198919737E07119146
chr2198919820198920207E07119457
chr2198920560198920776E07120197
chr2198925168198925266E07124805
chr2198930117198930438E07129754
chr2198931481198931548E07131118
chr2198945273198945529E07144910
chr2198860594198860652E072-39711
chr2198861601198861700E072-38663
chr2198861897198861982E072-38381
chr2198862039198862206E072-38157
chr2198862262198862312E072-38051
chr2198870058198870605E072-29758
chr2198881929198882001E072-18362
chr2198895428198895521E072-4842
chr2198902752198902963E0722389
chr2198905291198905433E0724928
chr2198905500198905702E0725137
chr2198914419198914505E07214056
chr2198917974198918065E07217611
chr2198918578198918696E07218215
chr2198919150198919308E07218787
chr2198919509198919737E07219146
chr2198919820198920207E07219457
chr2198920560198920776E07220197
chr2198922587198922655E07222224
chr2198925168198925266E07224805
chr2198945273198945529E07244910
chr2198860594198860652E073-39711
chr2198861601198861700E073-38663
chr2198869628198869727E073-30636
chr2198869765198869846E073-30517
chr2198870058198870605E073-29758
chr2198918578198918696E07318215
chr2198919150198919308E07318787
chr2198919509198919737E07319146
chr2198860594198860652E074-39711
chr2198861601198861700E074-38663
chr2198861897198861982E074-38381
chr2198862039198862206E074-38157
chr2198862262198862312E074-38051
chr2198863014198863054E074-37309
chr2198868844198868923E074-31440
chr2198869003198869098E074-31265
chr2198869628198869727E074-30636
chr2198869765198869846E074-30517
chr2198881929198882001E074-18362
chr2198894292198894356E074-6007
chr2198894442198894522E074-5841
chr2198894809198894947E074-5416
chr2198895156198895261E074-5102
chr2198895311198895383E074-4980
chr2198902752198902963E0742389
chr2198905291198905433E0744928
chr2198905500198905702E0745137
chr2198906774198907233E0746411
chr2198917564198917745E07417201
chr2198917974198918065E07417611
chr2198918578198918696E07418215
chr2198919150198919308E07418787
chr2198919509198919737E07419146
chr2198919820198920207E07419457
chr2198920560198920776E07420197
chr2198930117198930438E07429754
chr2198931481198931548E07431118
chr2198945273198945529E07444910
chr2198945273198945529E08144910