rs7513168

Homo sapiens
T>C
CD53 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0314 (9398/29908,GnomAD)
C=0342 (9977/29118,TOPMED)
C=0311 (1556/5008,1000G)
C=0337 (1298/3854,ALSPAC)
C=0351 (1300/3708,TWINSUK)
chr1:110870290 (GRCh38.p7) (1p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
25 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.110870290T>C
GRCh37.p13 chr 1NC_000001.10:g.111412912T>C

Gene: CD53, CD53 molecule(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
CD53 transcript variant 1NM_001040033.1:c.N/AUpstream Transcript Variant
CD53 transcript variant 2NM_000560.3:c.N/AN/A
CD53 transcript variant 3NM_001320638.1:c.N/AN/A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.663C=0.337
1000GenomesAmericanSub694T=0.660C=0.340
1000GenomesEast AsianSub1008T=0.875C=0.125
1000GenomesEuropeSub1006T=0.628C=0.372
1000GenomesGlobalStudy-wide5008T=0.689C=0.311
1000GenomesSouth AsianSub978T=0.620C=0.380
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.663C=0.337
The Genome Aggregation DatabaseAfricanSub8710T=0.683C=0.317
The Genome Aggregation DatabaseAmericanSub838T=0.640C=0.360
The Genome Aggregation DatabaseEast AsianSub1610T=0.874C=0.126
The Genome Aggregation DatabaseEuropeSub18452T=0.674C=0.325
The Genome Aggregation DatabaseGlobalStudy-wide29908T=0.685C=0.314
The Genome Aggregation DatabaseOtherSub298T=0.580C=0.420
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.657C=0.342
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.649C=0.351
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
rs75131680.0000149alcoholismpha002893
rs75131680.000015alcohol dependence20201924
rs75131680.00019alcohol dependence(early age of onset)20201924

eQTL of rs7513168 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 rs7513168 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 )
chr1111413648111414008E074736
chr1111414054111414126E0741142

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1111416015111416216E0673103
chr1111416227111416294E0673315
chr1111416347111416913E0673435
chr1111416015111416216E0683103
chr1111416227111416294E0683315
chr1111416347111416913E0683435
chr1111416919111417581E0684007
chr1111417654111418436E0684742
chr1111416347111416913E0693435
chr1111415395111415943E0712483
chr1111416015111416216E0713103
chr1111416227111416294E0713315
chr1111416347111416913E0713435
chr1111416919111417581E0714007
chr1111417654111418436E0714742
chr1111418524111418574E0715612
chr1111416347111416913E0723435
chr1111416919111417581E0724007
chr1111417654111418436E0724742
chr1111418524111418574E0725612
chr1111416015111416216E0743103
chr1111416227111416294E0743315
chr1111416347111416913E0743435
chr1111417654111418436E0744742
chr1111418524111418574E0745612