rs2719791

Homo sapiens
C>T
PLCB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0410 (12231/29820,GnomAD)
T=0468 (13642/29118,TOPMED)
T=0500 (2503/5008,1000G)
T=0278 (1071/3854,ALSPAC)
T=0282 (1044/3708,TWINSUK)
chr20:8287092 (GRCh38.p7) (20p12.3)
ND
GWASdb2
1   publication(s)
See rs on genome
140 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.8287092C>T
GRCh37.p13 chr 20NC_000020.10:g.8267739C>T
PLCB1 RefSeqGeneNG_028168.1:g.159444C>T

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
1000GenomesAfricanSub1322C=0.259T=0.741
1000GenomesAmericanSub694C=0.540T=0.460
1000GenomesEast AsianSub1008C=0.519T=0.481
1000GenomesEuropeSub1006C=0.717T=0.283
1000GenomesGlobalStudy-wide5008C=0.500T=0.500
1000GenomesSouth AsianSub978C=0.560T=0.440
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.722T=0.278
The Genome Aggregation DatabaseAfricanSub8692C=0.319T=0.681
The Genome Aggregation DatabaseAmericanSub830C=0.590T=0.410
The Genome Aggregation DatabaseEast AsianSub1608C=0.550T=0.450
The Genome Aggregation DatabaseEuropeSub18388C=0.721T=0.278
The Genome Aggregation DatabaseGlobalStudy-wide29820C=0.589T=0.410
The Genome Aggregation DatabaseOtherSub302C=0.610T=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.531T=0.468
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.718T=0.282
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs27197914.39E-05nicotine smoking19268276

eQTL of rs2719791 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 rs2719791 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 )
chr2082253038225383E067-42356
chr2082253868225565E067-42174
chr2082258528225903E067-41836
chr2082261098226159E067-41580
chr2082456738245723E067-22016
chr2082459188245968E067-21771
chr2082822058282285E06714466
chr2082822948282350E06714555
chr2082824068282604E06714667
chr2082898118289861E06722072
chr2082899368290741E06722197
chr2082997238300187E06731984
chr2083117448312304E06744005
chr2083123198312409E06744580
chr2083124478312534E06744708
chr2083125968312996E06744857
chr2083132098313375E06745470
chr2083166088316660E06748869
chr2082223158222435E068-45304
chr2082225098222585E068-45154
chr2082227108222768E068-44971
chr2082236258223753E068-43986
chr2082510518251096E068-16643
chr2082558468256583E068-11156
chr2082822058282285E06814466
chr2082822948282350E06814555
chr2082824068282604E06814667
chr2082899368290741E06822197
chr2082909438290983E06823204
chr2082910098291086E06823270
chr2082913598291529E06823620
chr2082915878291641E06823848
chr2082920478292158E06824308
chr2082921628292241E06824423
chr2083111148311276E06843375
chr2083114168311483E06843677
chr2083116698311729E06843930
chr2083117448312304E06844005
chr2083123198312409E06844580
chr2083124478312534E06844708
chr2083125968312996E06844857
chr2082228368223024E069-44715
chr2082230958223179E069-44560
chr2082558468256583E069-11156
chr2083111148311276E06943375
chr2083114168311483E06943677
chr2083116698311729E06943930
chr2082843288284421E07016589
chr2082844348284521E07016695
chr2082847368284799E07016997
chr2082848998285161E07017160
chr2082851938285241E07017454
chr2082898118289861E07022072
chr2082899368290741E07022197
chr2082250688225251E071-42488
chr2082253038225383E071-42356
chr2082253868225565E071-42174
chr2082255718225686E071-42053
chr2083116698311729E07143930
chr2083117448312304E07144005
chr2083123198312409E07144580
chr2083124478312534E07144708
chr2083125968312996E07144857
chr2082558468256583E072-11156
chr2083117448312304E07244005
chr2083123198312409E07244580
chr2083124478312534E07244708
chr2083125968312996E07244857
chr2082228368223024E073-44715
chr2082230958223179E073-44560
chr2082235408223586E073-44153
chr2082249038224953E073-42786
chr2082250688225251E073-42488
chr2082253038225383E073-42356
chr2082253868225565E073-42174
chr2082255718225686E073-42053
chr2082258528225903E073-41836
chr2082558468256583E073-11156
chr2082822058282285E07314466
chr2082822948282350E07314555
chr2082899368290741E07322197
chr2083111148311276E07343375
chr2083114168311483E07343677
chr2083116698311729E07343930
chr2083123198312409E07344580
chr2083124478312534E07344708
chr2083125968312996E07344857
chr2082250688225251E074-42488
chr2082253038225383E074-42356
chr2082253868225565E074-42174
chr2082255718225686E074-42053
chr2082258528225903E074-41836
chr2082261098226159E074-41580
chr2082261978226324E074-41415
chr2082822058282285E07414466
chr2082822948282350E07414555
chr2082824068282604E07414667
chr2082843288284421E07416589
chr2082844348284521E07416695
chr2082847368284799E07416997
chr2082910098291086E07423270
chr2082913598291529E07423620
chr2082915878291641E07423848
chr2082875088287817E08119769
chr2082878388287878E08120099
chr2082898118289861E08122072
chr2082899368290741E08122197
chr2082909438290983E08123204
chr2082910098291086E08123270
chr2082913598291529E08123620
chr2082915878291641E08123848
chr2083079218307990E08140182
chr2083087498309194E08141010
chr2083092448309300E08141505
chr2083093568309510E08141617
chr2083111148311276E08143375
chr2083114168311483E08143677
chr2083116698311729E08143930
chr2083117448312304E08144005
chr2083123198312409E08144580
chr2083124478312534E08144708
chr2083125968312996E08144857
chr2082875088287817E08219769
chr2082878388287878E08220099
chr2082898118289861E08222072
chr2082899368290741E08222197
chr2082909438290983E08223204
chr2082910098291086E08223270
chr2082913598291529E08223620
chr2082915878291641E08223848
chr2082920478292158E08224308
chr2082921628292241E08224423
chr2083093568309510E08241617
chr2083111148311276E08243375
chr2083114168311483E08243677
chr2083116698311729E08243930
chr2083117448312304E08244005
chr2083123198312409E08244580
chr2083124478312534E08244708
chr2083125968312996E08244857