rs745899

Homo sapiens
A>T
PLCL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0428 (12829/29924,GnomAD)
T=0440 (12829/29118,TOPMED)
T=0418 (2092/5008,1000G)
A==0487 (1876/3854,ALSPAC)
A==0496 (1838/3708,TWINSUK)
chr2:198043316 (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.198043316A>T
GRCh37.p13 chr 2NC_000002.11:g.198908040A>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
1000GenomesAfricanSub1322A=0.651T=0.349
1000GenomesAmericanSub694A=0.580T=0.420
1000GenomesEast AsianSub1008A=0.779T=0.221
1000GenomesEuropeSub1006A=0.449T=0.551
1000GenomesGlobalStudy-wide5008A=0.582T=0.418
1000GenomesSouth AsianSub978A=0.430T=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.487T=0.513
The Genome Aggregation DatabaseAfricanSub8708A=0.630T=0.370
The Genome Aggregation DatabaseAmericanSub836A=0.660T=0.340
The Genome Aggregation DatabaseEast AsianSub1618A=0.802T=0.198
The Genome Aggregation DatabaseEuropeSub18460A=0.521T=0.479
The Genome Aggregation DatabaseGlobalStudy-wide29924A=0.571T=0.428
The Genome Aggregation DatabaseOtherSub302A=0.480T=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.559T=0.440
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.496T=0.504
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
rs7458994.24E-06alcohol consumption23743675

eQTL of rs745899 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 rs745899 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 )
chr2198859584198859710E067-48330
chr2198860594198860652E067-47388
chr2198861601198861700E067-46340
chr2198861897198861982E067-46058
chr2198862039198862206E067-45834
chr2198862262198862312E067-45728
chr2198863014198863054E067-44986
chr2198895311198895383E067-12657
chr2198905291198905433E067-2607
chr2198918578198918696E06710538
chr2198945273198945529E06737233
chr2198860594198860652E068-47388
chr2198861601198861700E068-46340
chr2198861897198861982E068-46058
chr2198869628198869727E068-38313
chr2198869765198869846E068-38194
chr2198894292198894356E068-13684
chr2198905291198905433E068-2607
chr2198905500198905702E068-2338
chr2198919509198919737E06811469
chr2198919820198920207E06811780
chr2198920560198920776E06812520
chr2198922587198922655E06814547
chr2198930117198930438E06822077
chr2198945273198945529E06837233
chr2198860594198860652E069-47388
chr2198861601198861700E069-46340
chr2198869765198869846E069-38194
chr2198870058198870605E069-37435
chr2198881929198882001E069-26039
chr2198895156198895261E069-12779
chr2198895311198895383E069-12657
chr2198895428198895521E069-12519
chr2198902752198902963E069-5077
chr2198905291198905433E069-2607
chr2198905500198905702E069-2338
chr2198906774198907233E069-807
chr2198917564198917745E0699524
chr2198917974198918065E0699934
chr2198918578198918696E06910538
chr2198930117198930438E06922077
chr2198945273198945529E06937233
chr2198894809198894947E070-13093
chr2198896952198897006E070-11034
chr2198898314198898364E070-9676
chr2198920560198920776E07012520
chr2198858638198858821E071-49219
chr2198860594198860652E071-47388
chr2198861601198861700E071-46340
chr2198861897198861982E071-46058
chr2198862039198862206E071-45834
chr2198862262198862312E071-45728
chr2198869003198869098E071-38942
chr2198869628198869727E071-38313
chr2198869765198869846E071-38194
chr2198894292198894356E071-13684
chr2198894442198894522E071-13518
chr2198894809198894947E071-13093
chr2198902752198902963E071-5077
chr2198903313198903359E071-4681
chr2198905291198905433E071-2607
chr2198905500198905702E071-2338
chr2198906774198907233E071-807
chr2198917564198917745E0719524
chr2198917974198918065E0719934
chr2198918578198918696E07110538
chr2198919150198919308E07111110
chr2198919509198919737E07111469
chr2198919820198920207E07111780
chr2198920560198920776E07112520
chr2198925168198925266E07117128
chr2198930117198930438E07122077
chr2198931481198931548E07123441
chr2198945273198945529E07137233
chr2198860594198860652E072-47388
chr2198861601198861700E072-46340
chr2198861897198861982E072-46058
chr2198862039198862206E072-45834
chr2198862262198862312E072-45728
chr2198870058198870605E072-37435
chr2198881929198882001E072-26039
chr2198895428198895521E072-12519
chr2198902752198902963E072-5077
chr2198905291198905433E072-2607
chr2198905500198905702E072-2338
chr2198914419198914505E0726379
chr2198917974198918065E0729934
chr2198918578198918696E07210538
chr2198919150198919308E07211110
chr2198919509198919737E07211469
chr2198919820198920207E07211780
chr2198920560198920776E07212520
chr2198922587198922655E07214547
chr2198925168198925266E07217128
chr2198945273198945529E07237233
chr2198860594198860652E073-47388
chr2198861601198861700E073-46340
chr2198869628198869727E073-38313
chr2198869765198869846E073-38194
chr2198870058198870605E073-37435
chr2198918578198918696E07310538
chr2198919150198919308E07311110
chr2198919509198919737E07311469
chr2198860594198860652E074-47388
chr2198861601198861700E074-46340
chr2198861897198861982E074-46058
chr2198862039198862206E074-45834
chr2198862262198862312E074-45728
chr2198863014198863054E074-44986
chr2198868844198868923E074-39117
chr2198869003198869098E074-38942
chr2198869628198869727E074-38313
chr2198869765198869846E074-38194
chr2198881929198882001E074-26039
chr2198894292198894356E074-13684
chr2198894442198894522E074-13518
chr2198894809198894947E074-13093
chr2198895156198895261E074-12779
chr2198895311198895383E074-12657
chr2198902752198902963E074-5077
chr2198905291198905433E074-2607
chr2198905500198905702E074-2338
chr2198906774198907233E074-807
chr2198917564198917745E0749524
chr2198917974198918065E0749934
chr2198918578198918696E07410538
chr2198919150198919308E07411110
chr2198919509198919737E07411469
chr2198919820198920207E07411780
chr2198920560198920776E07412520
chr2198930117198930438E07422077
chr2198931481198931548E07423441
chr2198945273198945529E07437233
chr2198945273198945529E08137233