rs12903120

Homo sapiens
G>T
C15orf53 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0246 (7381/29902,GnomAD)
T=0249 (7250/29118,TOPMED)
T=0193 (968/5008,1000G)
T=0312 (1204/3854,ALSPAC)
T=0316 (1173/3708,TWINSUK)
chr15:38695896 (GRCh38.p7) (15q14)
AD
GWASdb2
2   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.38695896G>T
GRCh37.p13 chr 15NC_000015.9:g.38988097G>T

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
1000GenomesAfricanSub1322G=0.827T=0.173
1000GenomesAmericanSub694G=0.750T=0.250
1000GenomesEast AsianSub1008G=0.901T=0.099
1000GenomesEuropeSub1006G=0.738T=0.262
1000GenomesGlobalStudy-wide5008G=0.807T=0.193
1000GenomesSouth AsianSub978G=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.688T=0.312
The Genome Aggregation DatabaseAfricanSub8706G=0.808T=0.192
The Genome Aggregation DatabaseAmericanSub838G=0.740T=0.260
The Genome Aggregation DatabaseEast AsianSub1622G=0.909T=0.091
The Genome Aggregation DatabaseEuropeSub18436G=0.714T=0.285
The Genome Aggregation DatabaseGlobalStudy-wide29902G=0.753T=0.246
The Genome Aggregation DatabaseOtherSub300G=0.730T=0.270
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.751T=0.249
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.684T=0.316
PMID Title Author Journal
26044620Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction.Reyes-Gibby CCBMC Syst Biol
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
rs129031205.45E-08alcohol dependence23089632
rs129031200.00000762alcohol dependence23089632

eQTL of rs12903120 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 rs12903120 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 )
chr153896065238961725E068-26372
chr153896065238961725E069-26372
chr153896065238961725E070-26372
chr153894079638940926E071-47171
chr153900002839001434E08111931
chr153900646639007349E08118369
chr153896051838960573E082-27524
chr153896065238961725E082-26372