rs1316543

Homo sapiens
G>A
GRK5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0162 (4867/29926,GnomAD)
A=0128 (3747/29118,TOPMED)
A=0170 (852/5008,1000G)
A=0211 (813/3854,ALSPAC)
A=0203 (751/3708,TWINSUK)
chr10:119445148 (GRCh38.p7) (10q26.11)
AD
GWASCatalog
1   publication(s)
See rs on genome
40 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.119445148G>A
GRCh37.p13 chr 10NC_000010.10:g.121204660G>A

Gene: GRK5, G protein-coupled receptor kinase 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GRK5 transcriptNM_005308.2:c.N/AIntron Variant
GRK5 transcript variant X1XM_005269707.1:c.N/AIntron Variant
GRK5 transcript variant X2XM_005269708.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.992A=0.008
1000GenomesAmericanSub694G=0.890A=0.110
1000GenomesEast AsianSub1008G=0.609A=0.391
1000GenomesEuropeSub1006G=0.776A=0.224
1000GenomesGlobalStudy-wide5008G=0.830A=0.170
1000GenomesSouth AsianSub978G=0.850A=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.789A=0.211
The Genome Aggregation DatabaseAfricanSub8716G=0.964A=0.036
The Genome Aggregation DatabaseAmericanSub838G=0.870A=0.130
The Genome Aggregation DatabaseEast AsianSub1618G=0.605A=0.395
The Genome Aggregation DatabaseEuropeSub18452G=0.796A=0.204
The Genome Aggregation DatabaseGlobalStudy-wide29926G=0.837A=0.162
The Genome Aggregation DatabaseOtherSub302G=0.860A=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.871A=0.128
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.797A=0.203
PMID Title Author Journal
28990359Ancestry-specific and sex-specific risk alleles identified in a genome-wide gene-by-alcohol dependence interaction study of risky sexual behaviors.Polimanti RAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs13165431E-09alcohol dependence28990359

eQTL of rs1316543 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 rs1316543 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 )
chr10121155364121155461E068-49199
chr10121155532121155719E068-48941
chr10121155844121156189E068-48471
chr10121155364121155461E069-49199
chr10121155532121155719E069-48941
chr10121155364121155461E070-49199
chr10121155532121155719E070-48941
chr10121155844121156189E070-48471
chr10121181127121182266E070-22394
chr10121182308121182358E070-22302
chr10121182435121182619E070-22041
chr10121253495121253632E07048835
chr10121155532121155719E071-48941
chr10121155844121156189E071-48471
chr10121156272121156612E071-48048
chr10121160501121160853E071-43807
chr10121160882121161009E071-43651
chr10121165545121165644E071-39016
chr10121165723121165773E071-38887
chr10121165880121165963E071-38697
chr10121166040121166465E071-38195
chr10121166578121166763E071-37897
chr10121181127121182266E071-22394
chr10121184179121184232E072-20428
chr10121184286121184497E072-20163
chr10121184502121184576E072-20084
chr10121184598121184658E072-20002
chr10121253495121253632E07248835
chr10121171630121174291E073-30369
chr10121165195121165283E074-39377
chr10121165545121165644E074-39016
chr10121165723121165773E074-38887
chr10121165880121165963E074-38697
chr10121166040121166465E074-38195
chr10121248829121249663E07444169
chr10121171630121174291E081-30369
chr10121249761121250077E08145101
chr10121251459121252290E08146799
chr10121155364121155461E082-49199
chr10121155532121155719E082-48941