rs58267302

Homo sapiens
T>C
LOC105378618 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0251 (7527/29890,GnomAD)
C=0283 (8240/29118,TOPMED)
C=0321 (1609/5008,1000G)
C=0145 (558/3854,ALSPAC)
C=0135 (502/3708,TWINSUK)
chr1:30259150 (GRCh38.p7) (1p35.2)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.30259150T>C
GRCh37.p13 chr 1NC_000001.10:g.30731997T>C

Gene: LOC105378618, uncharacterized LOC105378618(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105378618 transcript variant X1XR_947130.2:n.N/AIntron Variant
LOC105378618 transcript variant X2XR_947129.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.539C=0.461
1000GenomesAmericanSub694T=0.770C=0.230
1000GenomesEast AsianSub1008T=0.441C=0.559
1000GenomesEuropeSub1006T=0.864C=0.136
1000GenomesGlobalStudy-wide5008T=0.679C=0.321
1000GenomesSouth AsianSub978T=0.860C=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.855C=0.145
The Genome Aggregation DatabaseAfricanSub8678T=0.573C=0.427
The Genome Aggregation DatabaseAmericanSub838T=0.760C=0.240
The Genome Aggregation DatabaseEast AsianSub1614T=0.437C=0.563
The Genome Aggregation DatabaseEuropeSub18458T=0.854C=0.145
The Genome Aggregation DatabaseGlobalStudy-wide29890T=0.748C=0.251
The Genome Aggregation DatabaseOtherSub302T=0.890C=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.717C=0.283
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.865C=0.135
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs582673025.75E-05alcohol consumption23743675

eQTL of rs58267302 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 rs58267302 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 )
chr13072340830723558E070-8439
chr13072363930723689E070-8308
chr13072375030723812E070-8185
chr13072421130724605E070-7392
chr13075957930759663E07027582
chr13070680030706898E071-25099
chr13070696630707302E071-24695
chr13072340830723558E081-8439
chr13072363930723689E081-8308
chr13072375030723812E081-8185
chr13072421130724605E081-7392
chr13072468930724743E081-7254
chr13072824530728406E081-3591
chr13072854230728916E081-3081
chr13072993330729983E081-2014
chr13077578730776024E08143790
chr13077606630776184E08144069
chr13072340830723558E082-8439
chr13072363930723689E082-8308
chr13072375030723812E082-8185
chr13072421130724605E082-7392
chr13075957930759663E08227582