rs6133573

Homo sapiens
T>C
PLCB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0171 (5133/29966,GnomAD)
C=0125 (3655/29118,TOPMED)
C=0115 (576/5008,1000G)
C=0197 (760/3854,ALSPAC)
C=0217 (805/3708,TWINSUK)
chr20:8311010 (GRCh38.p7) (20p12.3)
AD
GWASdb2
1   publication(s)
See rs on genome
153 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.8311010T>C
GRCh37.p13 chr 20NC_000020.10:g.8291657T>C
PLCB1 RefSeqGeneNG_028168.1:g.183362T>C

Gene: PLCB1, phospholipase C beta 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PLCB1 transcript variant 1NM_015192.3:c.N/AIntron Variant
PLCB1 transcript variant 2NM_182734.2:c.N/AIntron Variant
PLCB1 transcript variant X1XM_011529199.2:c.N/AIntron Variant
PLCB1 transcript variant X3XM_017027752.1:c.N/AIntron Variant
PLCB1 transcript variant X4XM_017027753.1:c.N/AIntron Variant
PLCB1 transcript variant X2XM_011529200.2:c.N/AGenic Upstream Transcript Variant
PLCB1 transcript variant X5XM_011529201.2:c.N/AGenic Upstream Transcript Variant
PLCB1 transcript variant X7XM_011529203.2:c.N/AGenic Upstream Transcript Variant
PLCB1 transcript variant X6XR_001754216.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.992C=0.008
1000GenomesAmericanSub694T=0.860C=0.140
1000GenomesEast AsianSub1008T=0.766C=0.234
1000GenomesEuropeSub1006T=0.808C=0.192
1000GenomesGlobalStudy-wide5008T=0.885C=0.115
1000GenomesSouth AsianSub978T=0.960C=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.803C=0.197
The Genome Aggregation DatabaseAfricanSub8732T=0.965C=0.035
The Genome Aggregation DatabaseAmericanSub838T=0.840C=0.160
The Genome Aggregation DatabaseEast AsianSub1612T=0.763C=0.237
The Genome Aggregation DatabaseEuropeSub18482T=0.768C=0.231
The Genome Aggregation DatabaseGlobalStudy-wide29966T=0.828C=0.171
The Genome Aggregation DatabaseOtherSub302T=0.870C=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.874C=0.125
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.783C=0.217
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs61335730.000267alcohol consumption (maxi-drinks)24277619

eQTL of rs6133573 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 rs6133573 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 )
chr2082456738245723E067-45934
chr2082459188245968E067-45689
chr2082822058282285E067-9372
chr2082822948282350E067-9307
chr2082824068282604E067-9053
chr2082898118289861E067-1796
chr2082899368290741E067-916
chr2082997238300187E0678066
chr2083117448312304E06720087
chr2083123198312409E06720662
chr2083124478312534E06720790
chr2083125968312996E06720939
chr2083132098313375E06721552
chr2083166088316660E06724951
chr2083243548324410E06732697
chr2083272548327753E06735597
chr2083277608327883E06736103
chr2083406898341033E06749032
chr2082510518251096E068-40561
chr2082558468256583E068-35074
chr2082822058282285E068-9372
chr2082822948282350E068-9307
chr2082824068282604E068-9053
chr2082899368290741E068-916
chr2082909438290983E068-674
chr2082910098291086E068-571
chr2082913598291529E068-128
chr2082915878291641E068-16
chr2082920478292158E068390
chr2082921628292241E068505
chr2083111148311276E06819457
chr2083114168311483E06819759
chr2083116698311729E06820012
chr2083117448312304E06820087
chr2083123198312409E06820662
chr2083124478312534E06820790
chr2083125968312996E06820939
chr2083243548324410E06832697
chr2083248728324970E06833215
chr2083252858325366E06833628
chr2083254618325532E06833804
chr2083255438325668E06833886
chr2083257458325795E06834088
chr2083257968325850E06834139
chr2083261768326226E06834519
chr2083264078326457E06834750
chr2083267398326799E06835082
chr2083268758327000E06835218
chr2083270358327128E06835378
chr2083272548327753E06835597
chr2083277608327883E06836103
chr2083280288328094E06836371
chr2083406898341033E06849032
chr2082558468256583E069-35074
chr2083111148311276E06919457
chr2083114168311483E06919759
chr2083116698311729E06920012
chr2082843288284421E070-7236
chr2082844348284521E070-7136
chr2082847368284799E070-6858
chr2082848998285161E070-6496
chr2082851938285241E070-6416
chr2082898118289861E070-1796
chr2082899368290741E070-916
chr2083116698311729E07120012
chr2083117448312304E07120087
chr2083123198312409E07120662
chr2083124478312534E07120790
chr2083125968312996E07120939
chr2083243548324410E07132697
chr2083248728324970E07133215
chr2083252858325366E07133628
chr2083272548327753E07135597
chr2083277608327883E07136103
chr2082558468256583E072-35074
chr2083117448312304E07220087
chr2083123198312409E07220662
chr2083124478312534E07220790
chr2083125968312996E07220939
chr2082558468256583E073-35074
chr2082822058282285E073-9372
chr2082822948282350E073-9307
chr2082899368290741E073-916
chr2083111148311276E07319457
chr2083114168311483E07319759
chr2083116698311729E07320012
chr2083123198312409E07320662
chr2083124478312534E07320790
chr2083125968312996E07320939
chr2083248728324970E07333215
chr2083254618325532E07333804
chr2083272548327753E07335597
chr2083277608327883E07336103
chr2083288488329031E07337191
chr2083290928329141E07337435
chr2083291588329208E07337501
chr2083406898341033E07349032
chr2082822058282285E074-9372
chr2082822948282350E074-9307
chr2082824068282604E074-9053
chr2082843288284421E074-7236
chr2082844348284521E074-7136
chr2082847368284799E074-6858
chr2082910098291086E074-571
chr2082913598291529E074-128
chr2082915878291641E074-16
chr2083254618325532E07433804
chr2083255438325668E07433886
chr2083257458325795E07434088
chr2083257968325850E07434139
chr2083261768326226E07434519
chr2082875088287817E081-3840
chr2082878388287878E081-3779
chr2082898118289861E081-1796
chr2082899368290741E081-916
chr2082909438290983E081-674
chr2082910098291086E081-571
chr2082913598291529E081-128
chr2082915878291641E081-16
chr2083079218307990E08116264
chr2083087498309194E08117092
chr2083092448309300E08117587
chr2083093568309510E08117699
chr2083111148311276E08119457
chr2083114168311483E08119759
chr2083116698311729E08120012
chr2083117448312304E08120087
chr2083123198312409E08120662
chr2083124478312534E08120790
chr2083125968312996E08120939
chr2083248728324970E08133215
chr2083252858325366E08133628
chr2082875088287817E082-3840
chr2082878388287878E082-3779
chr2082898118289861E082-1796
chr2082899368290741E082-916
chr2082909438290983E082-674
chr2082910098291086E082-571
chr2082913598291529E082-128
chr2082915878291641E082-16
chr2082920478292158E082390
chr2082921628292241E082505
chr2083093568309510E08217699
chr2083111148311276E08219457
chr2083114168311483E08219759
chr2083116698311729E08220012
chr2083117448312304E08220087
chr2083123198312409E08220662
chr2083124478312534E08220790
chr2083125968312996E08220939
chr2083248728324970E08233215
chr2083254618325532E08233804
chr2083268758327000E08235218