rs4312298

Homo sapiens
T>G
PLCG2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0355 (10623/29924,GnomAD)
G=0458 (13343/29118,TOPMED)
G=0370 (1854/5008,1000G)
G=0272 (1050/3854,ALSPAC)
G=0264 (978/3708,TWINSUK)
chr16:81947571 (GRCh38.p7) (16q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
7 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.81947571T>G
GRCh37.p13 chr 16NC_000016.9:g.81981176T>G
PLCG2 RefSeqGene LRG_376

Gene: PLCG2, phospholipase C gamma 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PLCG2 transcriptNM_002661.4:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.271G=0.729
1000GenomesAmericanSub694T=0.690G=0.310
1000GenomesEast AsianSub1008T=0.823G=0.177
1000GenomesEuropeSub1006T=0.726G=0.274
1000GenomesGlobalStudy-wide5008T=0.630G=0.370
1000GenomesSouth AsianSub978T=0.770G=0.230
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.728G=0.272
The Genome Aggregation DatabaseAfricanSub8700T=0.338G=0.662
The Genome Aggregation DatabaseAmericanSub838T=0.710G=0.290
The Genome Aggregation DatabaseEast AsianSub1612T=0.874G=0.126
The Genome Aggregation DatabaseEuropeSub18472T=0.763G=0.236
The Genome Aggregation DatabaseGlobalStudy-wide29924T=0.645G=0.355
The Genome Aggregation DatabaseOtherSub302T=0.820G=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.541G=0.458
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.736G=0.264
PMID Title Author Journal
21956439Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.Zuo LNeuropsychopharmacology

P-Value

SNP ID p-value Traits Study
rs43122987E-06alcohol dependence21956439

eQTL of rs4312298 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 rs4312298 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 )
chr168197133381971622E068-9554
chr168197172481971845E068-9331
chr168202625182026506E06845075
chr168202656782026784E06845391
chr168202682182026923E06845645
chr168202692882026998E06845752
chr168197272081973574E070-7602