rs67031482

Homo sapiens
C>T
PLCL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0432 (12952/29932,GnomAD)
T=0445 (12966/29118,TOPMED)
T=0422 (2113/5008,1000G)
C==0487 (1875/3854,ALSPAC)
C==0495 (1835/3708,TWINSUK)
chr2:198046442 (GRCh38.p7) (2q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
126 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.198046442C>T
GRCh37.p13 chr 2NC_000002.11:g.198911166C>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=0.638T=0.362
1000GenomesAmericanSub694C=0.580T=0.420
1000GenomesEast AsianSub1008C=0.778T=0.222
1000GenomesEuropeSub1006C=0.449T=0.551
1000GenomesGlobalStudy-wide5008C=0.578T=0.422
1000GenomesSouth AsianSub978C=0.430T=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.487T=0.513
The Genome Aggregation DatabaseAfricanSub8710C=0.617T=0.383
The Genome Aggregation DatabaseAmericanSub832C=0.660T=0.340
The Genome Aggregation DatabaseEast AsianSub1616C=0.801T=0.199
The Genome Aggregation DatabaseEuropeSub18472C=0.521T=0.479
The Genome Aggregation DatabaseGlobalStudy-wide29932C=0.567T=0.432
The Genome Aggregation DatabaseOtherSub302C=0.480T=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.554T=0.445
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.495T=0.505
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
rs670314824E-06alcohol consumption23743675

eQTL of rs67031482 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 rs67031482 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 )
chr2198861601198861700E067-49466
chr2198861897198861982E067-49184
chr2198862039198862206E067-48960
chr2198862262198862312E067-48854
chr2198863014198863054E067-48112
chr2198895311198895383E067-15783
chr2198905291198905433E067-5733
chr2198918578198918696E0677412
chr2198945273198945529E06734107
chr2198861601198861700E068-49466
chr2198861897198861982E068-49184
chr2198869628198869727E068-41439
chr2198869765198869846E068-41320
chr2198894292198894356E068-16810
chr2198905291198905433E068-5733
chr2198905500198905702E068-5464
chr2198919509198919737E0688343
chr2198919820198920207E0688654
chr2198920560198920776E0689394
chr2198922587198922655E06811421
chr2198930117198930438E06818951
chr2198945273198945529E06834107
chr2198861601198861700E069-49466
chr2198869765198869846E069-41320
chr2198870058198870605E069-40561
chr2198881929198882001E069-29165
chr2198895156198895261E069-15905
chr2198895311198895383E069-15783
chr2198895428198895521E069-15645
chr2198902752198902963E069-8203
chr2198905291198905433E069-5733
chr2198905500198905702E069-5464
chr2198906774198907233E069-3933
chr2198917564198917745E0696398
chr2198917974198918065E0696808
chr2198918578198918696E0697412
chr2198930117198930438E06918951
chr2198945273198945529E06934107
chr2198894809198894947E070-16219
chr2198896952198897006E070-14160
chr2198898314198898364E070-12802
chr2198920560198920776E0709394
chr2198861601198861700E071-49466
chr2198861897198861982E071-49184
chr2198862039198862206E071-48960
chr2198862262198862312E071-48854
chr2198869003198869098E071-42068
chr2198869628198869727E071-41439
chr2198869765198869846E071-41320
chr2198894292198894356E071-16810
chr2198894442198894522E071-16644
chr2198894809198894947E071-16219
chr2198902752198902963E071-8203
chr2198903313198903359E071-7807
chr2198905291198905433E071-5733
chr2198905500198905702E071-5464
chr2198906774198907233E071-3933
chr2198917564198917745E0716398
chr2198917974198918065E0716808
chr2198918578198918696E0717412
chr2198919150198919308E0717984
chr2198919509198919737E0718343
chr2198919820198920207E0718654
chr2198920560198920776E0719394
chr2198925168198925266E07114002
chr2198930117198930438E07118951
chr2198931481198931548E07120315
chr2198945273198945529E07134107
chr2198960865198960964E07149699
chr2198861601198861700E072-49466
chr2198861897198861982E072-49184
chr2198862039198862206E072-48960
chr2198862262198862312E072-48854
chr2198870058198870605E072-40561
chr2198881929198882001E072-29165
chr2198895428198895521E072-15645
chr2198902752198902963E072-8203
chr2198905291198905433E072-5733
chr2198905500198905702E072-5464
chr2198914419198914505E0723253
chr2198917974198918065E0726808
chr2198918578198918696E0727412
chr2198919150198919308E0727984
chr2198919509198919737E0728343
chr2198919820198920207E0728654
chr2198920560198920776E0729394
chr2198922587198922655E07211421
chr2198925168198925266E07214002
chr2198945273198945529E07234107
chr2198861601198861700E073-49466
chr2198869628198869727E073-41439
chr2198869765198869846E073-41320
chr2198870058198870605E073-40561
chr2198918578198918696E0737412
chr2198919150198919308E0737984
chr2198919509198919737E0738343
chr2198861601198861700E074-49466
chr2198861897198861982E074-49184
chr2198862039198862206E074-48960
chr2198862262198862312E074-48854
chr2198863014198863054E074-48112
chr2198868844198868923E074-42243
chr2198869003198869098E074-42068
chr2198869628198869727E074-41439
chr2198869765198869846E074-41320
chr2198881929198882001E074-29165
chr2198894292198894356E074-16810
chr2198894442198894522E074-16644
chr2198894809198894947E074-16219
chr2198895156198895261E074-15905
chr2198895311198895383E074-15783
chr2198902752198902963E074-8203
chr2198905291198905433E074-5733
chr2198905500198905702E074-5464
chr2198906774198907233E074-3933
chr2198917564198917745E0746398
chr2198917974198918065E0746808
chr2198918578198918696E0747412
chr2198919150198919308E0747984
chr2198919509198919737E0748343
chr2198919820198920207E0748654
chr2198920560198920776E0749394
chr2198930117198930438E07418951
chr2198931481198931548E07420315
chr2198945273198945529E07434107
chr2198945273198945529E08134107