rs6732340

Homo sapiens
C>G
PLCL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0403 (12080/29916,GnomAD)
G=0400 (11651/29118,TOPMED)
G=0388 (1941/5008,1000G)
C==0489 (1885/3854,ALSPAC)
C==0496 (1840/3708,TWINSUK)
chr2:198048228 (GRCh38.p7) (2q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
120 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.198048228C>G
GRCh37.p13 chr 2NC_000002.11:g.198912952C>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=0.759G=0.241
1000GenomesAmericanSub694C=0.590G=0.410
1000GenomesEast AsianSub1008C=0.778G=0.222
1000GenomesEuropeSub1006C=0.449G=0.551
1000GenomesGlobalStudy-wide5008C=0.612G=0.388
1000GenomesSouth AsianSub978C=0.430G=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.489G=0.511
The Genome Aggregation DatabaseAfricanSub8700C=0.713G=0.287
The Genome Aggregation DatabaseAmericanSub838C=0.670G=0.330
The Genome Aggregation DatabaseEast AsianSub1616C=0.804G=0.196
The Genome Aggregation DatabaseEuropeSub18460C=0.521G=0.478
The Genome Aggregation DatabaseGlobalStudy-wide29916C=0.596G=0.403
The Genome Aggregation DatabaseOtherSub302C=0.480G=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.599G=0.400
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.496G=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
rs67323404.63E-06alcohol consumption23743675

eQTL of rs6732340 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 rs6732340 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 )
chr2198863014198863054E067-49898
chr2198895311198895383E067-17569
chr2198905291198905433E067-7519
chr2198918578198918696E0675626
chr2198945273198945529E06732321
chr2198961450198961502E06748498
chr2198961841198961912E06748889
chr2198962411198962470E06749459
chr2198869628198869727E068-43225
chr2198869765198869846E068-43106
chr2198894292198894356E068-18596
chr2198905291198905433E068-7519
chr2198905500198905702E068-7250
chr2198919509198919737E0686557
chr2198919820198920207E0686868
chr2198920560198920776E0687608
chr2198922587198922655E0689635
chr2198930117198930438E06817165
chr2198945273198945529E06832321
chr2198961841198961912E06848889
chr2198869765198869846E069-43106
chr2198870058198870605E069-42347
chr2198881929198882001E069-30951
chr2198895156198895261E069-17691
chr2198895311198895383E069-17569
chr2198895428198895521E069-17431
chr2198902752198902963E069-9989
chr2198905291198905433E069-7519
chr2198905500198905702E069-7250
chr2198906774198907233E069-5719
chr2198917564198917745E0694612
chr2198917974198918065E0695022
chr2198918578198918696E0695626
chr2198930117198930438E06917165
chr2198945273198945529E06932321
chr2198961841198961912E06948889
chr2198962411198962470E06949459
chr2198894809198894947E070-18005
chr2198896952198897006E070-15946
chr2198898314198898364E070-14588
chr2198920560198920776E0707608
chr2198869003198869098E071-43854
chr2198869628198869727E071-43225
chr2198869765198869846E071-43106
chr2198894292198894356E071-18596
chr2198894442198894522E071-18430
chr2198894809198894947E071-18005
chr2198902752198902963E071-9989
chr2198903313198903359E071-9593
chr2198905291198905433E071-7519
chr2198905500198905702E071-7250
chr2198906774198907233E071-5719
chr2198917564198917745E0714612
chr2198917974198918065E0715022
chr2198918578198918696E0715626
chr2198919150198919308E0716198
chr2198919509198919737E0716557
chr2198919820198920207E0716868
chr2198920560198920776E0717608
chr2198925168198925266E07112216
chr2198930117198930438E07117165
chr2198931481198931548E07118529
chr2198945273198945529E07132321
chr2198960865198960964E07147913
chr2198961450198961502E07148498
chr2198961841198961912E07148889
chr2198962411198962470E07149459
chr2198870058198870605E072-42347
chr2198881929198882001E072-30951
chr2198895428198895521E072-17431
chr2198902752198902963E072-9989
chr2198905291198905433E072-7519
chr2198905500198905702E072-7250
chr2198914419198914505E0721467
chr2198917974198918065E0725022
chr2198918578198918696E0725626
chr2198919150198919308E0726198
chr2198919509198919737E0726557
chr2198919820198920207E0726868
chr2198920560198920776E0727608
chr2198922587198922655E0729635
chr2198925168198925266E07212216
chr2198945273198945529E07232321
chr2198961841198961912E07248889
chr2198962411198962470E07249459
chr2198869628198869727E073-43225
chr2198869765198869846E073-43106
chr2198870058198870605E073-42347
chr2198918578198918696E0735626
chr2198919150198919308E0736198
chr2198919509198919737E0736557
chr2198962411198962470E07349459
chr2198863014198863054E074-49898
chr2198868844198868923E074-44029
chr2198869003198869098E074-43854
chr2198869628198869727E074-43225
chr2198869765198869846E074-43106
chr2198881929198882001E074-30951
chr2198894292198894356E074-18596
chr2198894442198894522E074-18430
chr2198894809198894947E074-18005
chr2198895156198895261E074-17691
chr2198895311198895383E074-17569
chr2198902752198902963E074-9989
chr2198905291198905433E074-7519
chr2198905500198905702E074-7250
chr2198906774198907233E074-5719
chr2198917564198917745E0744612
chr2198917974198918065E0745022
chr2198918578198918696E0745626
chr2198919150198919308E0746198
chr2198919509198919737E0746557
chr2198919820198920207E0746868
chr2198920560198920776E0747608
chr2198930117198930438E07417165
chr2198931481198931548E07418529
chr2198945273198945529E07432321
chr2198961841198961912E07448889
chr2198962411198962470E07449459
chr2198945273198945529E08132321