rs7138291

Homo sapiens
T>C
CEP83 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0088 (2629/29872,GnomAD)
C=0092 (2696/29118,TOPMED)
C=0075 (377/5008,1000G)
C=0115 (445/3854,ALSPAC)
C=0110 (408/3708,TWINSUK)
chr12:94347930 (GRCh38.p7) (12q22)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.94347930T>C
GRCh37.p13 chr 12NC_000012.11:g.94741706T>C

Gene: CEP83, centrosomal protein 83(minus strand)

Molecule type Change Amino acid[Codon] SO Term
CEP83 transcript variant 2NM_001042399.1:c.N/AIntron Variant
CEP83 transcript variant 1NM_016122.2:c.N/AIntron Variant
CEP83 transcript variant X10XM_006719437.2:c.N/AIntron Variant
CEP83 transcript variant X2XM_011538424.1:c.N/AIntron Variant
CEP83 transcript variant X12XM_011538427.2:c.N/AIntron Variant
CEP83 transcript variant X16XM_011538429.2:c.N/AIntron Variant
CEP83 transcript variant X8XM_017019385.1:c.N/AIntron Variant
CEP83 transcript variant X9XM_017019386.1:c.N/AIntron Variant
CEP83 transcript variant X13XM_017019387.1:c.N/AIntron Variant
CEP83 transcript variant X12XM_017019388.1:c.N/AIntron Variant
CEP83 transcript variant X15XM_017019389.1:c.N/AIntron Variant
CEP83 transcript variant X1XR_001748731.1:n.N/AIntron Variant
CEP83 transcript variant X3XR_001748732.1:n.N/AIntron Variant
CEP83 transcript variant X4XR_001748733.1:n.N/AIntron Variant
CEP83 transcript variant X5XR_001748734.1:n.N/AIntron Variant
CEP83 transcript variant X6XR_001748735.1:n.N/AIntron Variant
CEP83 transcript variant X7XR_001748736.1:n.N/AIntron Variant
CEP83 transcript variant X11XR_001748737.1:n.N/AIntron Variant
CEP83 transcript variant X17XR_001748738.1:n.N/AIntron Variant
CEP83 transcript variant X18XR_001748739.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.961C=0.039
1000GenomesAmericanSub694T=0.870C=0.130
1000GenomesEast AsianSub1008T=0.941C=0.059
1000GenomesEuropeSub1006T=0.883C=0.117
1000GenomesGlobalStudy-wide5008T=0.925C=0.075
1000GenomesSouth AsianSub978T=0.940C=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.885C=0.115
The Genome Aggregation DatabaseAfricanSub8714T=0.958C=0.042
The Genome Aggregation DatabaseAmericanSub834T=0.830C=0.170
The Genome Aggregation DatabaseEast AsianSub1616T=0.942C=0.058
The Genome Aggregation DatabaseEuropeSub18408T=0.891C=0.108
The Genome Aggregation DatabaseGlobalStudy-wide29872T=0.912C=0.088
The Genome Aggregation DatabaseOtherSub300T=0.870C=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.907C=0.092
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.890C=0.110
PMID Title Author Journal
19581569Genome-wide association study of alcohol dependence.Treutlein JArch Gen Psychiatry

P-Value

SNP ID p-value Traits Study
rs71382915.7E-05alcohol dependence19581569

eQTL of rs7138291 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 rs7138291 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 )
chr129469803094698114E070-43592
chr129469829294699706E070-42000
chr129473560994735690E070-6016