rs7171233

Homo sapiens
T>A
C15orf53 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0263 (30753/116860,ExAC)
A=0248 (7445/29906,GnomAD)
A=0251 (7316/29118,TOPMED)
T==0270 (3518/12994,GO-ESP)
A=0195 (975/5008,1000G)
A=0312 (1203/3854,ALSPAC)
A=0316 (1172/3708,TWINSUK)
chr15:38696559 (GRCh38.p7) (15q14)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.38696559T>A
GRCh37.p13 chr 15NC_000015.9:g.38988760T>A

Gene: C15orf53, chromosome 15 open reading frame 53(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
C15orf53 transcriptNM_207444.2:c.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.823A=0.177
1000GenomesAmericanSub694T=0.740A=0.260
1000GenomesEast AsianSub1008T=0.901A=0.099
1000GenomesEuropeSub1006T=0.738A=0.262
1000GenomesGlobalStudy-wide5008T=0.805A=0.195
1000GenomesSouth AsianSub978T=0.800A=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.688A=0.312
The Exome Aggregation ConsortiumAmericanSub21836T=0.773A=0.226
The Exome Aggregation ConsortiumAsianSub22032T=0.827A=0.172
The Exome Aggregation ConsortiumEuropeSub72128T=0.698A=0.301
The Exome Aggregation ConsortiumGlobalStudy-wide116860T=0.736A=0.263
The Exome Aggregation ConsortiumOtherSub864T=0.720A=0.280
The Genome Aggregation DatabaseAfricanSub8706T=0.804A=0.196
The Genome Aggregation DatabaseAmericanSub838T=0.740A=0.260
The Genome Aggregation DatabaseEast AsianSub1622T=0.908A=0.092
The Genome Aggregation DatabaseEuropeSub18438T=0.713A=0.286
The Genome Aggregation DatabaseGlobalStudy-wide29906T=0.751A=0.248
The Genome Aggregation DatabaseOtherSub302T=0.720A=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.748A=0.251
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.684A=0.316
PMID Title Author Journal
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs71712338.45E-08alcohol dependence23089632

eQTL of rs7171233 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 rs7171233 in Fetal Brain

Probe ID Position Gene beta p-value
cg21039679chr15:38989738C15orf53-0.02688447685059417.6028e-16

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 )
chr153896065238961725E068-27035
chr153896065238961725E069-27035
chr153896065238961725E070-27035
chr153894079638940926E071-47834
chr153900002839001434E08111268
chr153900646639007349E08117706
chr153896051838960573E082-28187
chr153896065238961725E082-27035