rs12495710

Homo sapiens
C>T
COLQ : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0105 (3174/29976,GnomAD)
T=0105 (3063/29118,TOPMED)
T=0073 (366/5008,1000G)
T=0162 (623/3854,ALSPAC)
T=0157 (581/3708,TWINSUK)
chr3:15517721 (GRCh38.p7) (3p25.1)
AD
GWASdb2
1   publication(s)
See rs on genome
47 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.15517721C>T
GRCh37.p13 chr 3NC_000003.11:g.15559228C>T
COLQ RefSeqGeneNG_009032.1:g.9031G>A

Gene: COLQ, collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase(minus strand)

Molecule type Change Amino acid[Codon] SO Term
COLQ transcript variant INM_005677.3:c.N/AIntron Variant
COLQ transcript variant IIINM_080539.3:c.N/AIntron Variant
COLQ transcript variant IINM_080538.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.987T=0.013
1000GenomesAmericanSub694C=0.880T=0.120
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=0.827T=0.173
1000GenomesGlobalStudy-wide5008C=0.927T=0.073
1000GenomesSouth AsianSub978C=0.900T=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.838T=0.162
The Genome Aggregation DatabaseAfricanSub8722C=0.970T=0.030
The Genome Aggregation DatabaseAmericanSub838C=0.900T=0.100
The Genome Aggregation DatabaseEast AsianSub1622C=0.998T=0.002
The Genome Aggregation DatabaseEuropeSub18492C=0.850T=0.149
The Genome Aggregation DatabaseGlobalStudy-wide29976C=0.894T=0.105
The Genome Aggregation DatabaseOtherSub302C=0.790T=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.894T=0.105
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.843T=0.157
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
rs124957100.0000438alcoholismpha002891
rs124957100.0000438alcohol dependence20201924

eQTL of rs12495710 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 rs12495710 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 )
chr31551962815519706E067-39522
chr31551993815520076E067-39152
chr31553995615540287E067-18941
chr31556171215561983E0672484
chr31556201915562139E0672791
chr31552022815520278E068-38950
chr31552040115520452E068-38776
chr31553700615537229E068-21999
chr31553725715537385E068-21843
chr31553745215537556E068-21672
chr31553761315538152E068-21076
chr31555374215554044E068-5184
chr31555411015554237E068-4991
chr31555426515554384E068-4844
chr31558466515584827E06825437
chr31555411015554237E069-4991
chr31555426515554384E069-4844
chr31556171215561983E0692484
chr31556201915562139E0692791
chr31556235615562813E0693128
chr31555241415552536E070-6692
chr31555272315552783E070-6445
chr31555281715552889E070-6339
chr31555295315553105E070-6123
chr31555374215554044E070-5184
chr31555411015554237E070-4991
chr31555426515554384E070-4844
chr31551962815519706E071-39522
chr31551993815520076E071-39152
chr31552022815520278E071-38950
chr31552040115520452E071-38776
chr31553745215537556E071-21672
chr31553761315538152E071-21076
chr31551993815520076E072-39152
chr31552022815520278E072-38950
chr31555374215554044E072-5184
chr31555411015554237E072-4991
chr31555426515554384E072-4844
chr31555444515554499E072-4729
chr31552022815520278E073-38950
chr31552040115520452E073-38776
chr31553745215537556E073-21672
chr31553761315538152E073-21076
chr31551962815519706E074-39522
chr31551993815520076E074-39152
chr31552022815520278E074-38950
chr31552040115520452E074-38776