rs2913848

Homo sapiens
C>T
COL23A1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0345 (10318/29886,GnomAD)
T=0317 (9231/29118,TOPMED)
T=0309 (1549/5008,1000G)
T=0425 (1637/3854,ALSPAC)
T=0433 (1604/3708,TWINSUK)
chr5:178257021 (GRCh38.p7) (5q35.3)
AD
GWASdb2
1   publication(s)
See rs on genome
114 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.178257021C>T
GRCh37.p13 chr 5NC_000005.9:g.177684022C>T

Gene: COL23A1, collagen type XXIII alpha 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
COL23A1 transcriptNM_173465.3:c.N/AIntron Variant
COL23A1 transcript variant X1XM_006714933.3:c.N/AIntron Variant
COL23A1 transcript variant X2XM_006714934.3:c.N/AIntron Variant
COL23A1 transcript variant X4XM_006714935.3:c.N/AIntron Variant
COL23A1 transcript variant X7XM_006714936.3:c.N/AIntron Variant
COL23A1 transcript variant X3XM_011534688.2:c.N/AIntron Variant
COL23A1 transcript variant X5XM_011534689.2:c.N/AIntron Variant
COL23A1 transcript variant X6XM_011534690.2:c.N/AIntron Variant
COL23A1 transcript variant X8XM_011534691.2:c.N/AIntron Variant
COL23A1 transcript variant X9XM_011534692.2:c.N/AIntron Variant
COL23A1 transcript variant X10XM_017010018.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.837T=0.163
1000GenomesAmericanSub694C=0.610T=0.390
1000GenomesEast AsianSub1008C=0.786T=0.214
1000GenomesEuropeSub1006C=0.594T=0.406
1000GenomesGlobalStudy-wide5008C=0.691T=0.309
1000GenomesSouth AsianSub978C=0.550T=0.450
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.575T=0.425
The Genome Aggregation DatabaseAfricanSub8706C=0.801T=0.199
The Genome Aggregation DatabaseAmericanSub838C=0.620T=0.380
The Genome Aggregation DatabaseEast AsianSub1614C=0.778T=0.222
The Genome Aggregation DatabaseEuropeSub18426C=0.578T=0.421
The Genome Aggregation DatabaseGlobalStudy-wide29886C=0.654T=0.345
The Genome Aggregation DatabaseOtherSub302C=0.510T=0.490
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.683T=0.317
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.567T=0.433
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
rs29138480.00077alcohol dependence20201924

eQTL of rs2913848 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 rs2913848 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 )
chr5177656761177656845E067-27177
chr5177656884177656946E067-27076
chr5177657023177657131E067-26891
chr5177657264177657318E067-26704
chr5177657405177657459E067-26563
chr5177657660177657762E067-26260
chr5177706882177707422E06722860
chr5177707566177707666E06723544
chr5177716590177716648E06732568
chr5177634057177634818E068-49204
chr5177634826177634972E068-49050
chr5177657660177657762E068-26260
chr5177661784177662447E068-21575
chr5177662489177662570E068-21452
chr5177663392177663495E068-20527
chr5177663557177664021E068-20001
chr5177706882177707422E06822860
chr5177707566177707666E06823544
chr5177634057177634818E069-49204
chr5177656761177656845E069-27177
chr5177656884177656946E069-27076
chr5177657023177657131E069-26891
chr5177657264177657318E069-26704
chr5177657405177657459E069-26563
chr5177657660177657762E069-26260
chr5177707566177707666E06923544
chr5177634826177634972E070-49050
chr5177635074177635315E070-48707
chr5177637079177637188E070-46834
chr5177657023177657131E070-26891
chr5177657264177657318E070-26704
chr5177657405177657459E070-26563
chr5177657660177657762E070-26260
chr5177706882177707422E07022860
chr5177634057177634818E071-49204
chr5177640320177640394E071-43628
chr5177640479177640559E071-43463
chr5177656761177656845E071-27177
chr5177656884177656946E071-27076
chr5177657023177657131E071-26891
chr5177657264177657318E071-26704
chr5177657405177657459E071-26563
chr5177657660177657762E071-26260
chr5177663557177664021E071-20001
chr5177664431177664724E071-19298
chr5177664749177664825E071-19197
chr5177664975177665029E071-18993
chr5177665087177665292E071-18730
chr5177665511177665566E071-18456
chr5177665720177665916E071-18106
chr5177665920177666237E071-17785
chr5177666266177666538E071-17484
chr5177676215177677047E071-6975
chr5177706882177707422E07122860
chr5177707566177707666E07123544
chr5177715770177715855E07131748
chr5177715971177716339E07131949
chr5177657023177657131E072-26891
chr5177657264177657318E072-26704
chr5177657405177657459E072-26563
chr5177657660177657762E072-26260
chr5177661784177662447E072-21575
chr5177662489177662570E072-21452
chr5177706882177707422E07222860
chr5177715770177715855E07231748
chr5177715971177716339E07231949
chr5177716590177716648E07232568
chr5177634057177634818E073-49204
chr5177634826177634972E073-49050
chr5177635074177635315E073-48707
chr5177635362177635454E073-48568
chr5177635660177635854E073-48168
chr5177657405177657459E073-26563
chr5177657660177657762E073-26260
chr5177662657177662707E073-21315
chr5177663392177663495E073-20527
chr5177663557177664021E073-20001
chr5177706882177707422E07322860
chr5177716590177716648E07332568
chr5177716661177716701E07332639
chr5177716783177716918E07332761
chr5177634057177634818E074-49204
chr5177634826177634972E074-49050
chr5177635074177635315E074-48707
chr5177657023177657131E074-26891
chr5177657264177657318E074-26704
chr5177657405177657459E074-26563
chr5177657660177657762E074-26260
chr5177660594177660644E074-23378
chr5177661784177662447E074-21575
chr5177662489177662570E074-21452
chr5177663392177663495E074-20527
chr5177663557177664021E074-20001
chr5177664431177664724E074-19298
chr5177666266177666538E074-17484
chr5177666866177667020E074-17002
chr5177676215177677047E074-6975
chr5177707566177707666E07423544
chr5177715770177715855E07431748
chr5177715971177716339E07431949
chr5177716590177716648E07432568
chr5177634057177634818E081-49204
chr5177645989177646080E081-37942
chr5177657023177657131E081-26891
chr5177657264177657318E081-26704
chr5177657405177657459E081-26563
chr5177657660177657762E081-26260
chr5177706882177707422E08122860
chr5177634826177634972E082-49050
chr5177635074177635315E082-48707
chr5177657405177657459E082-26563
chr5177657660177657762E082-26260
chr5177715770177715855E08231748
chr5177715971177716339E08231949










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr5177658763177660458E067-23564
chr5177658763177660458E068-23564
chr5177658763177660458E069-23564
chr5177658763177660458E070-23564
chr5177658763177660458E071-23564
chr5177658763177660458E072-23564
chr5177658763177660458E073-23564
chr5177658763177660458E074-23564
chr5177658763177660458E082-23564