rs2196171

Homo sapiens
T>A / T>G
PLCL1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0466 (13934/29874,GnomAD)
G=0497 (14495/29118,TOPMED)
G=0454 (2273/5008,1000G)
T==0493 (1901/3854,ALSPAC)
G=0497 (1844/3708,TWINSUK)
chr2:198025083 (GRCh38.p7) (2q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.198025083T>A
GRCh38.p7 chr 2NC_000002.12:g.198025083T>G
GRCh37.p13 chr 2NC_000002.11:g.198889807T>A
GRCh37.p13 chr 2NC_000002.11:g.198889807T>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 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
1000GenomesAfricanSub1322T=0.492G=0.508
1000GenomesAmericanSub694T=0.570G=0.430
1000GenomesEast AsianSub1008T=0.780G=0.220
1000GenomesEuropeSub1006T=0.455G=0.545
1000GenomesGlobalStudy-wide5008T=0.546G=0.454
1000GenomesSouth AsianSub978T=0.450G=0.550
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.493G=0.507
The Genome Aggregation DatabaseAfricanSub8696T=0.480G=0.520
The Genome Aggregation DatabaseAmericanSub834T=0.660G=0.34,
The Genome Aggregation DatabaseEast AsianSub1614T=0.804G=0.196
The Genome Aggregation DatabaseEuropeSub18432T=0.530G=0.469
The Genome Aggregation DatabaseGlobalStudy-wide29874T=0.533G=0.466
The Genome Aggregation DatabaseOtherSub298T=0.480G=0.52,
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.502G=0.497
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.503G=0.497
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
rs21961711.24E-05alcohol consumption23743675

eQTL of rs2196171 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:198889807SF3B1ENSG00000115524.11T>G7.6222e-4589992Caudate_basal_ganglia

meQTL of rs2196171 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 )
chr25767938257679441E0814515
chr25767988757680092E0815020
chr25768879657689066E08113929
chr25768950057689617E08114633
chr25762898757629127E082-45740
chr25762928657629506E082-45361