rs2798303

Homo sapiens
T>C
GRK4 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0425 (12735/29926,GnomAD)
T==0407 (11863/29118,TOPMED)
T==0374 (1871/5008,1000G)
T==0453 (1745/3854,ALSPAC)
T==0437 (1622/3708,TWINSUK)
chr4:3038860 (GRCh38.p7) (4p16.3)
AD
GWASdb2
2   publication(s)
See rs on genome
23 Enhancers around
38 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.3038860T>C
GRCh37.p13 chr 4NC_000004.11:g.3040587T>C
GRK4 RefSeqGeneNG_029102.1:g.80245T>C

Gene: GRK4, G protein-coupled receptor kinase 4(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GRK4 transcript variant 2NM_001004056.1:c.N/AIntron Variant
GRK4 transcript variant 3NM_001004057.1:c.N/AIntron Variant
GRK4 transcript variant 4NM_005307.2:c.N/AIntron Variant
GRK4 transcript variant 1NM_182982.2:c.N/AIntron Variant
GRK4 transcript variant X23XM_005247962.3:c.N/AIntron Variant
GRK4 transcript variant X24XM_006713880.3:c.N/AIntron Variant
GRK4 transcript variant X1XM_011513447.2:c.N/AIntron Variant
GRK4 transcript variant X5XM_011513449.2:c.N/AIntron Variant
GRK4 transcript variant X6XM_011513450.2:c.N/AIntron Variant
GRK4 transcript variant X7XM_011513451.2:c.N/AIntron Variant
GRK4 transcript variant X9XM_011513453.2:c.N/AIntron Variant
GRK4 transcript variant X10XM_011513454.2:c.N/AIntron Variant
GRK4 transcript variant X13XM_011513455.2:c.N/AIntron Variant
GRK4 transcript variant X16XM_011513456.2:c.N/AIntron Variant
GRK4 transcript variant X3XM_017008052.1:c.N/AIntron Variant
GRK4 transcript variant X4XM_017008053.1:c.N/AIntron Variant
GRK4 transcript variant X12XM_017008054.1:c.N/AIntron Variant
GRK4 transcript variant X14XM_017008055.1:c.N/AIntron Variant
GRK4 transcript variant X15XM_017008056.1:c.N/AIntron Variant
GRK4 transcript variant X20XM_017008057.1:c.N/AIntron Variant
GRK4 transcript variant X21XM_017008058.1:c.N/AIntron Variant
GRK4 transcript variant X20XM_017008059.1:c.N/AIntron Variant
GRK4 transcript variant X21XM_017008060.1:c.N/AIntron Variant
GRK4 transcript variant X22XM_017008061.1:c.N/AIntron Variant
GRK4 transcript variant X22XM_017008062.1:c.N/AIntron Variant
GRK4 transcript variant X25XM_017008063.1:c.N/AIntron Variant
GRK4 transcript variant X26XM_017008064.1:c.N/AIntron Variant
GRK4 transcript variant X30XM_017008065.1:c.N/AIntron Variant
GRK4 transcript variant X31XM_017008066.1:c.N/AIntron Variant
GRK4 transcript variant X2XM_011513448.2:c.N/A3 Prime UTR Variant
GRK4 transcript variant X8XM_011513452.2:c.N/A3 Prime UTR Variant
GRK4 transcript variant X27XM_011513457.2:c.N/AGenic Downstream Transcript Variant
GRK4 transcript variant X28XR_001741211.1:n.N/AIntron Variant
GRK4 transcript variant X29XR_924943.2:n.N/AIntron Variant
GRK4 transcript variant X17XR_001741210.1:n.N/AGenic Downstream Transcript Variant
GRK4 transcript variant X11XR_924941.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.300C=0.700
1000GenomesAmericanSub694T=0.390C=0.610
1000GenomesEast AsianSub1008T=0.472C=0.528
1000GenomesEuropeSub1006T=0.458C=0.542
1000GenomesGlobalStudy-wide5008T=0.374C=0.626
1000GenomesSouth AsianSub978T=0.270C=0.730
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.453C=0.547
The Genome Aggregation DatabaseAfricanSub8718T=0.349C=0.651
The Genome Aggregation DatabaseAmericanSub838T=0.390C=0.610
The Genome Aggregation DatabaseEast AsianSub1620T=0.513C=0.487
The Genome Aggregation DatabaseEuropeSub18448T=0.456C=0.543
The Genome Aggregation DatabaseGlobalStudy-wide29926T=0.425C=0.574
The Genome Aggregation DatabaseOtherSub302T=0.390C=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.407C=0.592
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.437C=0.563
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
23691058Dosage transmission disequilibrium test (dTDT) for linkage and association detection.Zhang ZPLoS One

P-Value

SNP ID p-value Traits Study
rs27983030.00000128alcohol dependence23691058
rs27983030.00015alcohol dependence(early age of onset)20201924
rs27983030.00024alcohol dependence20201924

eQTL of rs2798303 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:3040587HTT-ASENSG00000251075.1T>C5.3115e-6-35654Cerebellum
Chr4:3040587HTT-ASENSG00000251075.1T>C2.6858e-7-35654Cerebellar_Hemisphere

meQTL of rs2798303 in Fetal Brain

Probe ID Position Gene beta p-value
cg02754929chr4:3295736-0.04951880137239561.4125e-10

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 )
chr430796053079913E06739018
chr430445263044726E0683939
chr430783313078523E06837744
chr430389423039374E069-1213
chr430443943044491E0693807
chr430783313078523E06937744
chr430796053079913E06939018
chr430209993021079E070-19508
chr430445263044726E0703939
chr430783313078523E07037744
chr430796053079913E07039018
chr430404903040532E071-55
chr430395803039659E072-928
chr430443943044491E0723807
chr430470413047732E0726454
chr430443943044491E0733807
chr430445263044726E0733939
chr430443943044491E0743807
chr430445263044726E0743939
chr430443943044491E0813807
chr430783313078523E08137744
chr430796053079913E08139018
chr430783313078523E08237744










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr430430203043912E0672433
chr430440393044139E0673452
chr430746883076747E06734101
chr430767973077632E06736210
chr430430203043912E0682433
chr430440393044139E0683452
chr430746883076747E06834101
chr430767973077632E06836210
chr430430203043912E0692433
chr430440393044139E0693452
chr430746883076747E06934101
chr430767973077632E06936210
chr430430203043912E0702433
chr430440393044139E0703452
chr430746883076747E07034101
chr430767973077632E07036210
chr430430203043912E0712433
chr430440393044139E0713452
chr430746883076747E07134101
chr430767973077632E07136210
chr430430203043912E0722433
chr430440393044139E0723452
chr430746883076747E07234101
chr430767973077632E07236210
chr430430203043912E0732433
chr430440393044139E0733452
chr430746883076747E07334101
chr430767973077632E07336210
chr430430203043912E0742433
chr430440393044139E0743452
chr430746883076747E07434101
chr430767973077632E07436210
chr430746883076747E08134101
chr430767973077632E08136210
chr430430203043912E0822433
chr430440393044139E0823452
chr430746883076747E08234101
chr430767973077632E08236210