rs2280515

Homo sapiens
G>T
DRC1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0106 (3188/29898,GnomAD)
G==0093 (2726/29116,TOPMED)
G==0210 (1053/5008,1000G)
G==0069 (267/3854,ALSPAC)
G==0061 (226/3708,TWINSUK)
chr2:26454435 (GRCh38.p7) (2p23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
27 Enhancers around
15 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.26454435G>T
GRCh37.p13 chr 2NC_000002.11:g.26677303G>T
DRC1 RefSeqGeneNG_042824.1:g.57524G>T

Gene: DRC1, dynein regulatory complex subunit 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DRC1 transcriptNM_145038.4:c.N/AIntron Variant
DRC1 transcript variant X1XM_005264637.3:c.N/AIntron Variant
DRC1 transcript variant X3XM_005264638.3:c.N/AIntron Variant
DRC1 transcript variant X2XM_017005271.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.074T=0.926
1000GenomesAmericanSub694G=0.270T=0.730
1000GenomesEast AsianSub1008G=0.598T=0.402
1000GenomesEuropeSub1006G=0.074T=0.926
1000GenomesGlobalStudy-wide5008G=0.210T=0.790
1000GenomesSouth AsianSub978G=0.090T=0.910
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.069T=0.931
The Genome Aggregation DatabaseAfricanSub8710G=0.077T=0.923
The Genome Aggregation DatabaseAmericanSub838G=0.300T=0.700
The Genome Aggregation DatabaseEast AsianSub1598G=0.617T=0.383
The Genome Aggregation DatabaseEuropeSub18450G=0.068T=0.932
The Genome Aggregation DatabaseGlobalStudy-wide29898G=0.106T=0.893
The Genome Aggregation DatabaseOtherSub302G=0.090T=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.093T=0.906
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.061T=0.939
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs22805150.000268alcohol dependence21314694

eQTL of rs2280515 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 rs2280515 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 )
chr22670674426706849E06729441
chr22670690326707112E06729600
chr22672579126725955E06748488
chr22667864626679321E0681343
chr22670062926700768E06823326
chr22670690326707112E06829600
chr22670735526707431E06830052
chr22663727326637434E069-39869
chr22665315126653459E070-23844
chr22672579126725955E07048488
chr22665554726656270E071-21033
chr22670674426706849E07129441
chr22670690326707112E07129600
chr22670735526707431E07130052
chr22672579126725955E07148488
chr22665554726656270E072-21033
chr22665554726656270E074-21033
chr22670654326706631E07429240
chr22670674426706849E07429441
chr22670690326707112E07429600
chr22670735526707431E07430052
chr22669502126695165E08117718
chr22671176126712050E08134458
chr22669283526692917E08215532
chr22669427226694395E08216969
chr22671176126712050E08234458
chr22672579126725955E08248488









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr22672608626726738E06748783
chr22672684526726962E06749542
chr22672608626726738E06848783
chr22672684526726962E06849542
chr22672608626726738E06948783
chr22672608626726738E07048783
chr22672684526726962E07049542
chr22672608626726738E07148783
chr22672608626726738E07248783
chr22672684526726962E07249542
chr22672608626726738E07348783
chr22672684526726962E07349542
chr22672608626726738E07448783
chr22672608626726738E08248783
chr22672684526726962E08249542