rs2297641

Homo sapiens
C>T
GRK5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0096 (2882/29922,GnomAD)
T=0076 (2220/29118,TOPMED)
T=0144 (722/5008,1000G)
T=0114 (441/3854,ALSPAC)
T=0123 (457/3708,TWINSUK)
chr10:119452893 (GRCh38.p7) (10q26.11)
AD
GWASdb2
1   publication(s)
See rs on genome
34 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.119452893C>T
GRCh37.p13 chr 10NC_000010.10:g.121212405C>T

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
1000GenomesAfricanSub1322C=0.978T=0.022
1000GenomesAmericanSub694C=0.880T=0.120
1000GenomesEast AsianSub1008C=0.684T=0.316
1000GenomesEuropeSub1006C=0.911T=0.089
1000GenomesGlobalStudy-wide5008C=0.856T=0.144
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.886T=0.114
The Genome Aggregation DatabaseAfricanSub8716C=0.957T=0.043
The Genome Aggregation DatabaseAmericanSub838C=0.900T=0.100
The Genome Aggregation DatabaseEast AsianSub1616C=0.691T=0.309
The Genome Aggregation DatabaseEuropeSub18452C=0.897T=0.102
The Genome Aggregation DatabaseGlobalStudy-wide29922C=0.903T=0.096
The Genome Aggregation DatabaseOtherSub300C=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.923T=0.076
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.877T=0.123
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs22976410.00012alcohol dependence20201924

eQTL of rs2297641 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 rs2297641 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 )
chr10121253817121254967E06741412
chr10121254976121255070E06742571
chr10121254976121255070E06842571
chr10121253817121254967E06941412
chr10121181127121182266E070-30139
chr10121182308121182358E070-30047
chr10121182435121182619E070-29786
chr10121253495121253632E07041090
chr10121253817121254967E07041412
chr10121254976121255070E07042571
chr10121255100121255301E07042695
chr10121165545121165644E071-46761
chr10121165723121165773E071-46632
chr10121165880121165963E071-46442
chr10121166040121166465E071-45940
chr10121166578121166763E071-45642
chr10121181127121182266E071-30139
chr10121253817121254967E07141412
chr10121184179121184232E072-28173
chr10121184286121184497E072-27908
chr10121184502121184576E072-27829
chr10121184598121184658E072-27747
chr10121253495121253632E07241090
chr10121253817121254967E07241412
chr10121171630121174291E073-38114
chr10121165195121165283E074-47122
chr10121165545121165644E074-46761
chr10121165723121165773E074-46632
chr10121165880121165963E074-46442
chr10121166040121166465E074-45940
chr10121248829121249663E07436424
chr10121171630121174291E081-38114
chr10121249761121250077E08137356
chr10121251459121252290E08139054