rs35062652

Homo sapiens
C>T
PLCL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0384 (11485/29868,GnomAD)
T=0364 (1821/5008,1000G)
C==0483 (1862/3854,ALSPAC)
C==0491 (1822/3708,TWINSUK)
chr2:198063203 (GRCh38.p7) (2q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
121 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.198063203C>T
GRCh37.p13 chr 2NC_000002.11:g.198927927C>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=0.841T=0.159
1000GenomesAmericanSub694C=0.600T=0.400
1000GenomesEast AsianSub1008C=0.778T=0.222
1000GenomesEuropeSub1006C=0.449T=0.551
1000GenomesGlobalStudy-wide5008C=0.636T=0.364
1000GenomesSouth AsianSub978C=0.430T=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.483T=0.517
The Genome Aggregation DatabaseAfricanSub8680C=0.789T=0.211
The Genome Aggregation DatabaseAmericanSub832C=0.670T=0.330
The Genome Aggregation DatabaseEast AsianSub1614C=0.805T=0.195
The Genome Aggregation DatabaseEuropeSub18440C=0.516T=0.483
The Genome Aggregation DatabaseGlobalStudy-wide29868C=0.615T=0.384
The Genome Aggregation DatabaseOtherSub302C=0.480T=0.520
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.491T=0.509
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
rs350626526.13E-06alcohol consumption23743675

eQTL of rs35062652 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 rs35062652 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 )
chr2198895311198895383E067-32544
chr2198905291198905433E067-22494
chr2198918578198918696E067-9231
chr2198945273198945529E06717346
chr2198961450198961502E06733523
chr2198961841198961912E06733914
chr2198962411198962470E06734484
chr2198963763198963935E06735836
chr2198965149198965308E06737222
chr2198975540198975603E06747613
chr2198894292198894356E068-33571
chr2198905291198905433E068-22494
chr2198905500198905702E068-22225
chr2198919509198919737E068-8190
chr2198919820198920207E068-7720
chr2198920560198920776E068-7151
chr2198922587198922655E068-5272
chr2198930117198930438E0682190
chr2198945273198945529E06817346
chr2198961841198961912E06833914
chr2198965149198965308E06837222
chr2198881929198882001E069-45926
chr2198895156198895261E069-32666
chr2198895311198895383E069-32544
chr2198895428198895521E069-32406
chr2198902752198902963E069-24964
chr2198905291198905433E069-22494
chr2198905500198905702E069-22225
chr2198906774198907233E069-20694
chr2198917564198917745E069-10182
chr2198917974198918065E069-9862
chr2198918578198918696E069-9231
chr2198930117198930438E0692190
chr2198945273198945529E06917346
chr2198961841198961912E06933914
chr2198962411198962470E06934484
chr2198963763198963935E06935836
chr2198965149198965308E06937222
chr2198975540198975603E06947613
chr2198894809198894947E070-32980
chr2198896952198897006E070-30921
chr2198898314198898364E070-29563
chr2198920560198920776E070-7151
chr2198894292198894356E071-33571
chr2198894442198894522E071-33405
chr2198894809198894947E071-32980
chr2198902752198902963E071-24964
chr2198903313198903359E071-24568
chr2198905291198905433E071-22494
chr2198905500198905702E071-22225
chr2198906774198907233E071-20694
chr2198917564198917745E071-10182
chr2198917974198918065E071-9862
chr2198918578198918696E071-9231
chr2198919150198919308E071-8619
chr2198919509198919737E071-8190
chr2198919820198920207E071-7720
chr2198920560198920776E071-7151
chr2198925168198925266E071-2661
chr2198930117198930438E0712190
chr2198931481198931548E0713554
chr2198945273198945529E07117346
chr2198960865198960964E07132938
chr2198961450198961502E07133523
chr2198961841198961912E07133914
chr2198962411198962470E07134484
chr2198963763198963935E07135836
chr2198965149198965308E07137222
chr2198975540198975603E07147613
chr2198977050198977114E07149123
chr2198881929198882001E072-45926
chr2198895428198895521E072-32406
chr2198902752198902963E072-24964
chr2198905291198905433E072-22494
chr2198905500198905702E072-22225
chr2198914419198914505E072-13422
chr2198917974198918065E072-9862
chr2198918578198918696E072-9231
chr2198919150198919308E072-8619
chr2198919509198919737E072-8190
chr2198919820198920207E072-7720
chr2198920560198920776E072-7151
chr2198922587198922655E072-5272
chr2198925168198925266E072-2661
chr2198945273198945529E07217346
chr2198961841198961912E07233914
chr2198962411198962470E07234484
chr2198965149198965308E07237222
chr2198975540198975603E07247613
chr2198977050198977114E07249123
chr2198918578198918696E073-9231
chr2198919150198919308E073-8619
chr2198919509198919737E073-8190
chr2198962411198962470E07334484
chr2198965149198965308E07337222
chr2198881929198882001E074-45926
chr2198894292198894356E074-33571
chr2198894442198894522E074-33405
chr2198894809198894947E074-32980
chr2198895156198895261E074-32666
chr2198895311198895383E074-32544
chr2198902752198902963E074-24964
chr2198905291198905433E074-22494
chr2198905500198905702E074-22225
chr2198906774198907233E074-20694
chr2198917564198917745E074-10182
chr2198917974198918065E074-9862
chr2198918578198918696E074-9231
chr2198919150198919308E074-8619
chr2198919509198919737E074-8190
chr2198919820198920207E074-7720
chr2198920560198920776E074-7151
chr2198930117198930438E0742190
chr2198931481198931548E0743554
chr2198945273198945529E07417346
chr2198961841198961912E07433914
chr2198962411198962470E07434484
chr2198963763198963935E07435836
chr2198965149198965308E07437222
chr2198975540198975603E07447613
chr2198945273198945529E08117346