rs1801058

Homo sapiens
T>C
GRK4 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0373 (45331/121388,ExAC)
T==0340 (10145/29838,GnomAD)
T==0298 (8682/29118,TOPMED)
C=0324 (4222/13006,GO-ESP)
T==0307 (1536/5008,1000G)
T==0427 (1645/3854,ALSPAC)
T==0417 (1546/3708,TWINSUK)
chr4:3037423 (GRCh38.p7) (4p16.3)
AD
GWASdb2
12   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.3037423T>C
GRCh37.p13 chr 4NC_000004.11:g.3039150T>C
GRK4 RefSeqGeneNG_029102.1:g.78808T>C

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

Molecule type Change Amino acid[Codon] SO Term
GRK4 transcript variant 1NM_182982.2:c.145...NM_182982.2:c.1457T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform alphaNP_892027.2:p.Val...NP_892027.2:p.Val486AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant 2NM_001004056.1:c....NM_001004056.1:c.1361T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform betaNP_001004056.1:p....NP_001004056.1:p.Val454AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant 3NM_001004057.1:c....NM_001004057.1:c.1457T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform gammaNP_001004057.1:p....NP_001004057.1:p.Val486AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant 4NM_005307.2:c.136...NM_005307.2:c.1361T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform deltaNP_005298.2:p.Val...NP_005298.2:p.Val454AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X9XM_011513453.2: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 X15XM_017008056.1:c.N/AIntron Variant
GRK4 transcript variant X30XM_017008065.1:c.N/AIntron Variant
GRK4 transcript variant X27XM_011513457.2:c.N/AGenic Downstream Transcript Variant
GRK4 transcript variant X1XM_011513447.2:c....XM_011513447.2:c.1574T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X1XP_011511749.1:p....XP_011511749.1:p.Val525AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X2XM_011513448.2:c....XM_011513448.2:c.1574T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X2XP_011511750.1:p....XP_011511750.1:p.Val525AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X3XM_017008052.1:c....XM_017008052.1:c.1496T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X3XP_016863541.1:p....XP_016863541.1:p.Val499AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X4XM_017008053.1:c....XM_017008053.1:c.1484T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X4XP_016863542.1:p....XP_016863542.1:p.Val495AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X5XM_011513449.2:c....XM_011513449.2:c.1478T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X5XP_011511751.1:p....XP_011511751.1:p.Val493AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X6XM_011513450.2:c....XM_011513450.2:c.1574T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X6XP_011511752.1:p....XP_011511752.1:p.Val525AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X7XM_011513451.2:c....XM_011513451.2:c.1436T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X7XP_011511753.1:p....XP_011511753.1:p.Val479AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X8XM_011513452.2:c....XM_011513452.2:c.1436T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X8XP_011511754.1:p....XP_011511754.1:p.Val479AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X10XM_011513454.2:c....XM_011513454.2:c.1436T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X10XP_011511756.1:p....XP_011511756.1:p.Val479AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X12XM_017008054.1:c....XM_017008054.1:c.1319T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X11XP_016863543.1:p....XP_016863543.1:p.Val440AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X14XM_017008055.1:c....XM_017008055.1:c.1223T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X13XP_016863544.1:p....XP_016863544.1:p.Val408AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X20XM_017008057.1:c....XM_017008057.1:c.875T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X16XP_016863546.1:p....XP_016863546.1:p.Val292AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X21XM_017008058.1:c....XM_017008058.1:c.875T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X16XP_016863547.1:p....XP_016863547.1:p.Val292AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X20XM_017008059.1:c....XM_017008059.1:c.875T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X16XP_016863548.1:p....XP_016863548.1:p.Val292AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X21XM_017008060.1:c....XM_017008060.1:c.875T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X16XP_016863549.1:p....XP_016863549.1:p.Val292AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X22XM_017008061.1:c....XM_017008061.1:c.824T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X17XP_016863550.1:p....XP_016863550.1:p.Val275AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X22XM_017008062.1:c....XM_017008062.1:c.824T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X17XP_016863551.1:p....XP_016863551.1:p.Val275AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X23XM_005247962.3:c....XM_005247962.3:c.824T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X17XP_005248019.1:p....XP_005248019.1:p.Val275AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X24XM_006713880.3:c....XM_006713880.3:c.824T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X17XP_006713943.1:p....XP_006713943.1:p.Val275AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X25XM_017008063.1:c....XM_017008063.1:c.875T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X18XP_016863552.1:p....XP_016863552.1:p.Val292AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X26XM_017008064.1:c....XM_017008064.1:c.737T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X19XP_016863553.1:p....XP_016863553.1:p.Val246AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X31XM_017008066.1:c....XM_017008066.1:c.737T>CV [GTG]> A [GCG]Coding Sequence Variant
G protein-coupled receptor kinase 4 isoform X22XP_016863555.1:p....XP_016863555.1:p.Val246AlaV [Val]> A [Ala]Missense Variant
GRK4 transcript variant X11XR_924941.2:n.225...XR_924941.2:n.2258T>CT>CNon Coding Transcript Variant
GRK4 transcript variant X28XR_001741211.1:n....XR_001741211.1:n.1950T>CT>CNon Coding Transcript Variant
GRK4 transcript variant X29XR_924943.2:n.181...XR_924943.2:n.1812T>CT>CNon Coding Transcript Variant
GRK4 transcript variant X17XR_001741210.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.090C=0.910
1000GenomesAmericanSub694T=0.360C=0.640
1000GenomesEast AsianSub1008T=0.466C=0.534
1000GenomesEuropeSub1006T=0.430C=0.570
1000GenomesGlobalStudy-wide5008T=0.307C=0.693
1000GenomesSouth AsianSub978T=0.270C=0.730
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.427C=0.573
The Exome Aggregation ConsortiumAmericanSub21982T=0.259C=0.740
The Exome Aggregation ConsortiumAsianSub25150T=0.343C=0.656
The Exome Aggregation ConsortiumEuropeSub73348T=0.417C=0.582
The Exome Aggregation ConsortiumGlobalStudy-wide121388T=0.373C=0.626
The Exome Aggregation ConsortiumOtherSub908T=0.400C=0.600
The Genome Aggregation DatabaseAfricanSub8688T=0.142C=0.858
The Genome Aggregation DatabaseAmericanSub834T=0.360C=0.640
The Genome Aggregation DatabaseEast AsianSub1604T=0.514C=0.486
The Genome Aggregation DatabaseEuropeSub18410T=0.417C=0.582
The Genome Aggregation DatabaseGlobalStudy-wide29838T=0.340C=0.660
The Genome Aggregation DatabaseOtherSub302T=0.340C=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.298C=0.701
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.417C=0.583
PMID Title Author Journal
19119263G-protein-coupled receptor kinase 4 polymorphisms and blood pressure response to metoprolol among African Americans: sex-specificity and interactions.Bhatnagar VAm J Hypertens
22639547Pooled analyses of the associations of polymorphisms in the GRK4 and EMILIN1 genes with hypertension risk.Liu CInt J Med Sci
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
23133444Genetic variation in CYP17A1 is associated with arterial stiffness in diabetic subjects.Yang SJExp Diabetes Res
20577119Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study.Irvin MRJ Hypertens
22949529G protein receptor kinase 4 polymorphisms: beta-blocker pharmacogenetics and treatment-related outcomes in hypertension.Vandell AGHypertension
27103841Personalized medicine and treatment approaches in hypertension: current perspectives.Byrd JBIntegr Blood Press Control
21058046Genetics of salt-sensitive hypertension.Sanada HCurr Hypertens Rep
20448640G protein-coupled receptor kinase 4 gene variants are not associated with preeclampsia in Northern Han Chinese.Sun CJHypertens Res
26730182Association between GRK4 and DRD1 gene polymorphisms and hypertension: a meta-analysis.Zhang HClin Interv Aging
23691058Dosage transmission disequilibrium test (dTDT) for linkage and association detection.Zhang ZPLoS One
20981351Promoter Polymorphism of RGS2 Gene Is Associated with Change of Blood Pressure in Subjects with Antihypertensive Treatment: The Azelnidipine and Temocapril in Hypertensive Patients with Type 2 Diabetes Study.Sugimoto KInt J Hypertens

P-Value

SNP ID p-value Traits Study
rs18010580.00000648alcohol dependence23691058
rs18010580.00022alcohol dependence20201924
rs18010580.0009alcohol dependence(early age of onset)20201924

eQTL of rs1801058 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr4:3039150HTT-ASENSG00000251075.1T>C5.3115e-6-37091Cerebellum
Chr4:3039150HTT-ASENSG00000251075.1T>C2.6858e-7-37091Cerebellar_Hemisphere

meQTL of rs1801058 in Fetal Brain

Probe ID Position Gene beta p-value
cg02754929chr4:3295736-0.05835395586223978.1564e-13

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 )
chr430796053079913E06740455
chr430445263044726E0685376
chr430783313078523E06839181
chr430389423039374E0690
chr430443943044491E0695244
chr430783313078523E06939181
chr430796053079913E06940455
chr430209993021079E070-18071
chr430445263044726E0705376
chr430783313078523E07039181
chr430796053079913E07040455
chr430404903040532E0711340
chr430395803039659E072430
chr430443943044491E0725244
chr430470413047732E0727891
chr430443943044491E0735244
chr430445263044726E0735376
chr430443943044491E0745244
chr430445263044726E0745376
chr430443943044491E0815244
chr430783313078523E08139181
chr430796053079913E08140455
chr430783313078523E08239181










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr430430203043912E0673870
chr430440393044139E0674889
chr430746883076747E06735538
chr430767973077632E06737647
chr430430203043912E0683870
chr430440393044139E0684889
chr430746883076747E06835538
chr430767973077632E06837647
chr430430203043912E0693870
chr430440393044139E0694889
chr430746883076747E06935538
chr430767973077632E06937647
chr430430203043912E0703870
chr430440393044139E0704889
chr430746883076747E07035538
chr430767973077632E07037647
chr430430203043912E0713870
chr430440393044139E0714889
chr430746883076747E07135538
chr430767973077632E07137647
chr430430203043912E0723870
chr430440393044139E0724889
chr430746883076747E07235538
chr430767973077632E07237647
chr430430203043912E0733870
chr430440393044139E0734889
chr430746883076747E07335538
chr430767973077632E07337647
chr430430203043912E0743870
chr430440393044139E0744889
chr430746883076747E07435538
chr430767973077632E07437647
chr430746883076747E08135538
chr430767973077632E08137647
chr430430203043912E0823870
chr430440393044139E0824889
chr430746883076747E08235538
chr430767973077632E08237647