rs17128651

Homo sapiens
G>A
COL24A1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0111 (3339/29954,GnomAD)
A=0122 (3577/29118,TOPMED)
A=0199 (997/5008,1000G)
A=0044 (169/3854,ALSPAC)
A=0036 (134/3708,TWINSUK)
chr1:86000053 (GRCh38.p7) (1p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.86000053G>A
GRCh37.p13 chr 1NC_000001.10:g.86465736G>A

Gene: COL24A1, collagen type XXIV alpha 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
COL24A1 transcriptNM_152890.5:c.N/AIntron Variant
COL24A1 transcript variant X1XM_017000924.1:c.N/AIntron Variant
COL24A1 transcript variant X2XM_017000925.1:c.N/AIntron Variant
COL24A1 transcript variant X3XM_017000926.1:c.N/AIntron Variant
COL24A1 transcript variant X4XM_017000927.1:c.N/AIntron Variant
COL24A1 transcript variant X6XM_017000928.1:c.N/AIntron Variant
COL24A1 transcript variant X7XM_017000929.1:c.N/AIntron Variant
COL24A1 transcript variant X8XM_017000930.1:c.N/AIntron Variant
COL24A1 transcript variant X5XR_001737092.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.786A=0.214
1000GenomesAmericanSub694G=0.920A=0.080
1000GenomesEast AsianSub1008G=0.552A=0.448
1000GenomesEuropeSub1006G=0.956A=0.044
1000GenomesGlobalStudy-wide5008G=0.801A=0.199
1000GenomesSouth AsianSub978G=0.830A=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.956A=0.044
The Genome Aggregation DatabaseAfricanSub8712G=0.796A=0.204
The Genome Aggregation DatabaseAmericanSub838G=0.950A=0.050
The Genome Aggregation DatabaseEast AsianSub1612G=0.577A=0.423
The Genome Aggregation DatabaseEuropeSub18490G=0.955A=0.044
The Genome Aggregation DatabaseGlobalStudy-wide29954G=0.888A=0.111
The Genome Aggregation DatabaseOtherSub302G=0.970A=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.877A=0.122
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.964A=0.036
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
rs171286510.00011alcohol dependence(early age of onset)20201924
rs171286510.00077alcohol dependence20201924

eQTL of rs17128651 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:86465736COL24A1ENSG00000171502.10G>A4.0640e-8-156890Putamen_basal_ganglia

meQTL of rs17128651 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.