rs1866666

Homo sapiens
T>C / T>G
PLCL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0403 (12079/29934,GnomAD)
C=0386 (1931/5008,1000G)
T==0483 (1861/3854,ALSPAC)
T==0491 (1819/3708,TWINSUK)
chr2:198075883 (GRCh38.p7) (2q33.1)
AD
GWASdb2
2   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.198075883T>C
GRCh38.p7 chr 2NC_000002.12:g.198075883T>G
GRCh37.p13 chr 2NC_000002.11:g.198940607T>C
GRCh37.p13 chr 2NC_000002.11:g.198940607T>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 X4XM_005246644.3: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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.769C=0.231
1000GenomesAmericanSub694T=0.590C=0.410
1000GenomesEast AsianSub1008T=0.778C=0.222
1000GenomesEuropeSub1006T=0.449C=0.551
1000GenomesGlobalStudy-wide5008T=0.614C=0.386
1000GenomesSouth AsianSub978T=0.430C=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.483C=0.517
The Genome Aggregation DatabaseAfricanSub8712T=0.725C=0.275
The Genome Aggregation DatabaseAmericanSub834T=0.670C=0.330
The Genome Aggregation DatabaseEast AsianSub1614T=0.802C=0.198
The Genome Aggregation DatabaseEuropeSub18472T=0.516C=0.483
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.596C=0.403
The Genome Aggregation DatabaseOtherSub302T=0.480C=0.520
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.491C=0.509
PMID Title Author Journal
26962151Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram.Verweij NHum Mol Genet
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
rs18666667.79E-06alcohol consumption23743675

eQTL of rs1866666 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 rs1866666 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 )
chr29667512896675208E067-18003
chr29667539796675458E067-17753
chr29668551796685600E067-7611
chr29668840996688794E067-4417
chr29669021996690311E067-2900
chr29669089496691115E067-2096
chr29672754196727591E06734330
chr29672774996727789E06734538
chr29672830096728350E06735089
chr29672890696728995E06735695
chr29672906196729220E06735850
chr29672923696729411E06736025
chr29672943596729526E06736224
chr29672958796729637E06736376
chr29673006396730111E06736852
chr29673390796733979E06740696
chr29673835696738432E06745145
chr29673853196738829E06745320
chr29667840396678483E068-14728
chr29667877796678849E068-14362
chr29667887896678918E068-14293
chr29667928096679320E068-13891
chr29668551796685600E068-7611
chr29668903496689124E068-4087
chr29668914596689198E068-4013
chr29669021996690311E068-2900
chr29669089496691115E068-2096
chr29672636096726417E06833149
chr29672754196727591E06834330
chr29672774996727789E06834538
chr29672906196729220E06835850
chr29672923696729411E06836025
chr29672943596729526E06836224
chr29672958796729637E06836376
chr29673364996733789E06840438
chr29673390796733979E06840696
chr29673426396734351E06841052
chr29673700996737074E06843798
chr29673731796737373E06844106
chr29673755196737672E06844340
chr29673779196738086E06844580
chr29673835696738432E06845145
chr29673853196738829E06845320
chr29667512896675208E069-18003
chr29667539796675458E069-17753
chr29667877796678849E069-14362
chr29667887896678918E069-14293
chr29667928096679320E069-13891
chr29667938996679489E069-13722
chr29668551796685600E069-7611
chr29669089496691115E069-2096
chr29672754196727591E06934330
chr29672774996727789E06934538
chr29672830096728350E06935089
chr29672841196728462E06935200
chr29672890696728995E06935695
chr29672906196729220E06935850
chr29672923696729411E06936025
chr29672943596729526E06936224
chr29672958796729637E06936376
chr29673006396730111E06936852
chr29673700996737074E06943798
chr29673731796737373E06944106
chr29673755196737672E06944340
chr29673779196738086E06944580
chr29673835696738432E06945145
chr29667512896675208E070-18003
chr29667539796675458E070-17753
chr29673319996733298E07039988
chr29673364996733789E07040438
chr29673390796733979E07040696
chr29673426396734351E07041052
chr29673700996737074E07043798
chr29673731796737373E07044106
chr29673755196737672E07044340
chr29673853196738829E07045320
chr29673916696739496E07045955
chr29667512896675208E071-18003
chr29667806596678295E071-14916
chr29667840396678483E071-14728
chr29667877796678849E071-14362
chr29668551796685600E071-7611
chr29668903496689124E071-4087
chr29668914596689198E071-4013
chr29669089496691115E071-2096
chr29672754196727591E07134330
chr29672774996727789E07134538
chr29672830096728350E07135089
chr29672841196728462E07135200
chr29672890696728995E07135695
chr29672906196729220E07135850
chr29672923696729411E07136025
chr29672943596729526E07136224
chr29672958796729637E07136376
chr29673390796733979E07140696
chr29673700996737074E07143798
chr29673731796737373E07144106
chr29673755196737672E07144340
chr29673779196738086E07144580
chr29673835696738432E07145145
chr29673853196738829E07145320
chr29667512896675208E072-18003
chr29667539796675458E072-17753
chr29667806596678295E072-14916
chr29667840396678483E072-14728
chr29667877796678849E072-14362
chr29667887896678918E072-14293
chr29667928096679320E072-13891
chr29667938996679489E072-13722
chr29668551796685600E072-7611
chr29669021996690311E072-2900
chr29669089496691115E072-2096
chr29672754196727591E07234330
chr29672774996727789E07234538
chr29672830096728350E07235089
chr29672841196728462E07235200
chr29672890696728995E07235695
chr29672906196729220E07235850
chr29672923696729411E07236025
chr29672943596729526E07236224
chr29672958796729637E07236376
chr29673006396730111E07236852
chr29673700996737074E07243798
chr29673731796737373E07244106
chr29673755196737672E07244340
chr29673779196738086E07244580
chr29673835696738432E07245145
chr29667840396678483E073-14728
chr29667877796678849E073-14362
chr29667887896678918E073-14293
chr29667928096679320E073-13891
chr29667938996679489E073-13722
chr29668840996688794E073-4417
chr29672754196727591E07334330
chr29672774996727789E07334538
chr29672906196729220E07335850
chr29672923696729411E07336025
chr29672943596729526E07336224
chr29672958796729637E07336376
chr29673006396730111E07336852
chr29673700996737074E07343798
chr29673731796737373E07344106
chr29673755196737672E07344340
chr29673779196738086E07344580
chr29667512896675208E074-18003
chr29667539796675458E074-17753
chr29667806596678295E074-14916
chr29667840396678483E074-14728
chr29667877796678849E074-14362
chr29667887896678918E074-14293
chr29667928096679320E074-13891
chr29667938996679489E074-13722
chr29668551796685600E074-7611
chr29668612996686210E074-7001
chr29668840996688794E074-4417
chr29673390796733979E07440696
chr29673700996737074E07443798
chr29673731796737373E07444106
chr29673755196737672E07444340
chr29673779196738086E07444580
chr29673835696738432E07445145
chr29667512896675208E081-18003
chr29667539796675458E081-17753
chr29673390796733979E08140696
chr29673731796737373E08144106
chr29673755196737672E08144340
chr29673779196738086E08144580
chr29673835696738432E08145145









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr29665724996657597E067-35614
chr29665793396658025E067-35186
chr29665828696658971E067-34240
chr29667565796675861E067-17350
chr29667592596675965E067-17246
chr29667603196676105E067-17106
chr29667610996676359E067-16852
chr29667687996677103E067-16108
chr29667718896677299E067-15912
chr29665675596656805E068-36406
chr29665684696656896E068-36315
chr29665695696656996E068-36215
chr29665724996657597E068-35614
chr29665793396658025E068-35186
chr29665828696658971E068-34240
chr29667565796675861E068-17350
chr29667592596675965E068-17246
chr29667603196676105E068-17106
chr29667610996676359E068-16852
chr29667687996677103E068-16108
chr29667718896677299E068-15912
chr29665675596656805E069-36406
chr29665684696656896E069-36315
chr29665695696656996E069-36215
chr29665724996657597E069-35614
chr29665793396658025E069-35186
chr29665828696658971E069-34240
chr29667565796675861E069-17350
chr29667592596675965E069-17246
chr29667603196676105E069-17106
chr29667610996676359E069-16852
chr29667687996677103E069-16108
chr29667718896677299E069-15912
chr29665675596656805E070-36406
chr29665684696656896E070-36315
chr29665695696656996E070-36215
chr29665724996657597E070-35614
chr29665793396658025E070-35186
chr29665828696658971E070-34240
chr29667565796675861E070-17350
chr29667592596675965E070-17246
chr29667603196676105E070-17106
chr29667610996676359E070-16852
chr29667687996677103E070-16108
chr29665724996657597E071-35614
chr29665793396658025E071-35186
chr29665828696658971E071-34240
chr29667565796675861E071-17350
chr29667592596675965E071-17246
chr29667603196676105E071-17106
chr29667610996676359E071-16852
chr29667687996677103E071-16108
chr29667718896677299E071-15912
chr29665724996657597E072-35614
chr29665793396658025E072-35186
chr29665828696658971E072-34240
chr29667565796675861E072-17350
chr29667592596675965E072-17246
chr29667603196676105E072-17106
chr29667610996676359E072-16852
chr29667687996677103E072-16108
chr29667718896677299E072-15912
chr29665724996657597E073-35614
chr29665793396658025E073-35186
chr29665828696658971E073-34240
chr29667565796675861E073-17350
chr29667592596675965E073-17246
chr29667603196676105E073-17106
chr29667610996676359E073-16852
chr29667687996677103E073-16108
chr29667718896677299E073-15912
chr29665724996657597E074-35614
chr29665793396658025E074-35186
chr29665828696658971E074-34240
chr29667565796675861E074-17350
chr29667592596675965E074-17246
chr29667603196676105E074-17106
chr29667610996676359E074-16852
chr29667687996677103E074-16108
chr29667718896677299E074-15912
chr29665724996657597E081-35614
chr29667565796675861E081-17350
chr29667592596675965E081-17246
chr29665675596656805E082-36406
chr29665684696656896E082-36315
chr29665695696656996E082-36215
chr29665724996657597E082-35614
chr29665793396658025E082-35186
chr29665828696658971E082-34240
chr29667565796675861E082-17350
chr29667592596675965E082-17246
chr29667603196676105E082-17106
chr29667610996676359E082-16852