rs7095989

Homo sapiens
A>C
GRK5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0364 (10903/29908,GnomAD)
C=0385 (11215/29118,TOPMED)
C=0361 (1810/5008,1000G)
C=0361 (1390/3854,ALSPAC)
C=0382 (1418/3708,TWINSUK)
chr10:119265585 (GRCh38.p7) (10q26.11)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.119265585A>C
GRCh37.p13 chr 10NC_000010.10:g.121025097A>C

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
1000GenomesAfricanSub1322A=0.577C=0.423
1000GenomesAmericanSub694A=0.540C=0.460
1000GenomesEast AsianSub1008A=0.765C=0.235
1000GenomesEuropeSub1006A=0.643C=0.357
1000GenomesGlobalStudy-wide5008A=0.639C=0.361
1000GenomesSouth AsianSub978A=0.660C=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.639C=0.361
The Genome Aggregation DatabaseAfricanSub8698A=0.586C=0.414
The Genome Aggregation DatabaseAmericanSub838A=0.530C=0.470
The Genome Aggregation DatabaseEast AsianSub1612A=0.774C=0.226
The Genome Aggregation DatabaseEuropeSub18458A=0.653C=0.346
The Genome Aggregation DatabaseGlobalStudy-wide29908A=0.635C=0.364
The Genome Aggregation DatabaseOtherSub302A=0.520C=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.614C=0.385
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.618C=0.382
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs70959890.000647alcohol consumption (maxi-drinks)24277619

eQTL of rs7095989 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 rs7095989 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 )
chr10120994708120995218E067-29879
chr10121029639121030016E0674542
chr10121030046121031807E0674949
chr10121040871121041823E06715774
chr10121041864121041998E06716767
chr10121047911121048010E06722814
chr10121049882121050183E06724785
chr10121050200121050663E06725103
chr10121012037121012597E068-12500
chr10121012609121014286E068-10811
chr10121040871121041823E06815774
chr10121041864121041998E06816767
chr10121042083121042133E06816986
chr10121042141121042287E06817044
chr10121047911121048010E06822814
chr10121048078121048609E06822981
chr10121048759121049607E06823662
chr10121050671121050985E06825574
chr10121053809121053903E06828712
chr10121073900121074005E06848803
chr10121074040121074225E06848943
chr10121074228121074303E06849131
chr10121074329121074451E06849232
chr10120994708120995218E069-29879
chr10121027792121029092E0692695
chr10121040871121041823E06915774
chr10121041864121041998E06916767
chr10121042083121042133E06916986
chr10121042141121042287E06917044
chr10121047911121048010E06922814
chr10121048078121048609E06922981
chr10120996411120998472E070-26625
chr10121017309121017928E070-7169
chr10121017956121018356E070-6741
chr10121040477121040835E07015380
chr10121040871121041823E07015774
chr10121009955121011472E071-13625
chr10121011489121011891E071-13206
chr10121011906121011970E071-13127
chr10121030046121031807E0714949
chr10121040477121040835E07115380
chr10121041864121041998E07116767
chr10121042083121042133E07116986
chr10121042141121042287E07117044
chr10121044788121044912E07119691
chr10121048078121048609E07122981
chr10121048759121049607E07123662
chr10121049729121049857E07124632
chr10121049882121050183E07124785
chr10121050200121050663E07125103
chr10121074040121074225E07148943
chr10121074228121074303E07149131
chr10121074329121074451E07149232
chr10121024301121024426E072-671
chr10121040477121040835E07215380
chr10121041864121041998E07216767
chr10121042083121042133E07216986
chr10121042141121042287E07217044
chr10121047911121048010E07222814
chr10121048078121048609E07222981
chr10120994565120994617E073-30480
chr10120994708120995218E073-29879
chr10121009955121011472E073-13625
chr10121011489121011891E073-13206
chr10121011906121011970E073-13127
chr10121012037121012597E073-12500
chr10121012609121014286E073-10811
chr10121015200121015317E073-9780
chr10121023500121024224E073-873
chr10121024301121024426E073-671
chr10121030046121031807E0734949
chr10121040477121040835E07315380
chr10121040871121041823E07315774
chr10121041864121041998E07316767
chr10121042083121042133E07316986
chr10121042141121042287E07317044
chr10121043987121044784E07318890
chr10121044788121044912E07319691
chr10121047693121047850E07322596
chr10121047911121048010E07322814
chr10121048078121048609E07322981
chr10121048759121049607E07323662
chr10120994708120995218E074-29879
chr10121009955121011472E074-13625
chr10121023500121024224E074-873
chr10121024301121024426E074-671
chr10121040871121041823E07415774
chr10121041864121041998E07416767
chr10121042083121042133E07416986
chr10121042141121042287E07417044
chr10121047911121048010E07422814
chr10121048078121048609E07422981
chr10121049882121050183E07424785
chr10121050200121050663E07425103
chr10120994708120995218E081-29879
chr10121017309121017928E081-7169
chr10121017956121018356E081-6741
chr10121023500121024224E081-873
chr10121024301121024426E081-671
chr10121040871121041823E08115774
chr10121041864121041998E08116767
chr10121017309121017928E082-7169
chr10121017956121018356E082-6741
chr10121023500121024224E082-873
chr10121040871121041823E08215774