rs7572733

Homo sapiens
C>T
PLCL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0405 (12106/29888,GnomAD)
T=0399 (11642/29118,TOPMED)
T=0386 (1931/5008,1000G)
C==0483 (1862/3854,ALSPAC)
C==0490 (1816/3708,TWINSUK)
chr2:198065082 (GRCh38.p7) (2q33.1)
AD
GWASdb2
2   publication(s)
See rs on genome
128 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.198065082C>T
GRCh37.p13 chr 2NC_000002.11:g.198929806C>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=0.768T=0.232
1000GenomesAmericanSub694C=0.590T=0.410
1000GenomesEast AsianSub1008C=0.778T=0.222
1000GenomesEuropeSub1006C=0.449T=0.551
1000GenomesGlobalStudy-wide5008C=0.614T=0.386
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 DatabaseAfricanSub8708C=0.719T=0.281
The Genome Aggregation DatabaseAmericanSub836C=0.670T=0.330
The Genome Aggregation DatabaseEast AsianSub1612C=0.805T=0.195
The Genome Aggregation DatabaseEuropeSub18430C=0.516T=0.483
The Genome Aggregation DatabaseGlobalStudy-wide29888C=0.595T=0.405
The Genome Aggregation DatabaseOtherSub302C=0.480T=0.520
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.600T=0.399
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.490T=0.510
PMID Title Author Journal
26603167Positive association of genetic variations in the phospholipase C-like 1 gene with dermatomyositis in Chinese Han.Wang QImmunol Res
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
rs75727336.97E-06alcohol consumption23743675

eQTL of rs7572733 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 rs7572733 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 )
chr2198895311198895383E067-34423
chr2198905291198905433E067-24373
chr2198918578198918696E067-11110
chr2198945273198945529E06715467
chr2198961450198961502E06731644
chr2198961841198961912E06732035
chr2198962411198962470E06732605
chr2198963763198963935E06733957
chr2198965149198965308E06735343
chr2198975540198975603E06745734
chr2198978077198978371E06748271
chr2198894292198894356E068-35450
chr2198905291198905433E068-24373
chr2198905500198905702E068-24104
chr2198919509198919737E068-10069
chr2198919820198920207E068-9599
chr2198920560198920776E068-9030
chr2198922587198922655E068-7151
chr2198930117198930438E068311
chr2198945273198945529E06815467
chr2198961841198961912E06832035
chr2198965149198965308E06835343
chr2198881929198882001E069-47805
chr2198895156198895261E069-34545
chr2198895311198895383E069-34423
chr2198895428198895521E069-34285
chr2198902752198902963E069-26843
chr2198905291198905433E069-24373
chr2198905500198905702E069-24104
chr2198906774198907233E069-22573
chr2198917564198917745E069-12061
chr2198917974198918065E069-11741
chr2198918578198918696E069-11110
chr2198930117198930438E069311
chr2198945273198945529E06915467
chr2198961841198961912E06932035
chr2198962411198962470E06932605
chr2198963763198963935E06933957
chr2198965149198965308E06935343
chr2198975540198975603E06945734
chr2198978425198978498E06948619
chr2198894809198894947E070-34859
chr2198896952198897006E070-32800
chr2198898314198898364E070-31442
chr2198920560198920776E070-9030
chr2198894292198894356E071-35450
chr2198894442198894522E071-35284
chr2198894809198894947E071-34859
chr2198902752198902963E071-26843
chr2198903313198903359E071-26447
chr2198905291198905433E071-24373
chr2198905500198905702E071-24104
chr2198906774198907233E071-22573
chr2198917564198917745E071-12061
chr2198917974198918065E071-11741
chr2198918578198918696E071-11110
chr2198919150198919308E071-10498
chr2198919509198919737E071-10069
chr2198919820198920207E071-9599
chr2198920560198920776E071-9030
chr2198925168198925266E071-4540
chr2198930117198930438E071311
chr2198931481198931548E0711675
chr2198945273198945529E07115467
chr2198960865198960964E07131059
chr2198961450198961502E07131644
chr2198961841198961912E07132035
chr2198962411198962470E07132605
chr2198963763198963935E07133957
chr2198965149198965308E07135343
chr2198975540198975603E07145734
chr2198977050198977114E07147244
chr2198881929198882001E072-47805
chr2198895428198895521E072-34285
chr2198902752198902963E072-26843
chr2198905291198905433E072-24373
chr2198905500198905702E072-24104
chr2198914419198914505E072-15301
chr2198917974198918065E072-11741
chr2198918578198918696E072-11110
chr2198919150198919308E072-10498
chr2198919509198919737E072-10069
chr2198919820198920207E072-9599
chr2198920560198920776E072-9030
chr2198922587198922655E072-7151
chr2198925168198925266E072-4540
chr2198945273198945529E07215467
chr2198961841198961912E07232035
chr2198962411198962470E07232605
chr2198965149198965308E07235343
chr2198975540198975603E07245734
chr2198977050198977114E07247244
chr2198978077198978371E07248271
chr2198918578198918696E073-11110
chr2198919150198919308E073-10498
chr2198919509198919737E073-10069
chr2198962411198962470E07332605
chr2198965149198965308E07335343
chr2198881929198882001E074-47805
chr2198894292198894356E074-35450
chr2198894442198894522E074-35284
chr2198894809198894947E074-34859
chr2198895156198895261E074-34545
chr2198895311198895383E074-34423
chr2198902752198902963E074-26843
chr2198905291198905433E074-24373
chr2198905500198905702E074-24104
chr2198906774198907233E074-22573
chr2198917564198917745E074-12061
chr2198917974198918065E074-11741
chr2198918578198918696E074-11110
chr2198919150198919308E074-10498
chr2198919509198919737E074-10069
chr2198919820198920207E074-9599
chr2198920560198920776E074-9030
chr2198930117198930438E074311
chr2198931481198931548E0741675
chr2198945273198945529E07415467
chr2198961841198961912E07432035
chr2198962411198962470E07432605
chr2198963763198963935E07433957
chr2198965149198965308E07435343
chr2198975540198975603E07445734
chr2198978077198978371E07448271
chr2198978425198978498E07448619
chr2198978866198979373E07449060
chr2198979410198979460E07449604
chr2198945273198945529E08115467