rs34356257

Homo sapiens
T>A / T>C
C15orf53 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0244 (7323/29904,GnomAD)
C=0250 (7302/29118,TOPMED)
C=0178 (892/5008,1000G)
C=0311 (1198/3854,ALSPAC)
C=0315 (1168/3708,TWINSUK)
chr15:38697404 (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.38697404T>A
GRCh38.p7 chr 15NC_000015.10:g.38697404T>C
GRCh37.p13 chr 15NC_000015.9:g.38989605T>A
GRCh37.p13 chr 15NC_000015.9:g.38989605T>C

Gene: C15orf53, chromosome 15 open reading frame 53(plus strand)

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

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.825C=0.175
1000GenomesAmericanSub694T=0.750C=0.250
1000GenomesEast AsianSub1008T=0.968C=0.032
1000GenomesEuropeSub1006T=0.740C=0.260
1000GenomesGlobalStudy-wide5008T=0.822C=0.178
1000GenomesSouth AsianSub978T=0.800C=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.689C=0.311
The Genome Aggregation DatabaseAfricanSub8704T=0.805C=0.195
The Genome Aggregation DatabaseAmericanSub836T=0.750C=0.250
The Genome Aggregation DatabaseEast AsianSub1620T=0.972C=0.028
The Genome Aggregation DatabaseEuropeSub18444T=0.713C=0.287
The Genome Aggregation DatabaseGlobalStudy-wide29904T=0.755C=0.244
The Genome Aggregation DatabaseOtherSub300T=0.730C=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.749C=0.250
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.685C=0.315
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
rs343562571.01E-07alcohol dependence23089632

eQTL of rs34356257 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 rs34356257 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 )
chr153896065238961725E068-26666
chr153896065238961725E069-26666
chr153896065238961725E070-26666
chr153894079638940926E071-47465
chr153900002839001434E08111637
chr153900646639007349E08118075
chr153896051838960573E082-27818
chr153896065238961725E082-26666