rs2172835

Homo sapiens
C>T
C15orf53 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0245 (7348/29902,GnomAD)
T=0254 (7402/29118,TOPMED)
T=0184 (920/5008,1000G)
T=0302 (1164/3854,ALSPAC)
T=0301 (1115/3708,TWINSUK)
chr15:38697970 (GRCh38.p7) (15q14)
AD
GWASdb2
4   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.38697970C>T
GRCh37.p13 chr 15NC_000015.9:g.38990171C>T

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
1000GenomesAfricanSub1322C=0.799T=0.201
1000GenomesAmericanSub694C=0.750T=0.250
1000GenomesEast AsianSub1008C=0.966T=0.034
1000GenomesEuropeSub1006C=0.747T=0.253
1000GenomesGlobalStudy-wide5008C=0.816T=0.184
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.698T=0.302
The Genome Aggregation DatabaseAfricanSub8700C=0.784T=0.216
The Genome Aggregation DatabaseAmericanSub834C=0.760T=0.240
The Genome Aggregation DatabaseEast AsianSub1618C=0.968T=0.032
The Genome Aggregation DatabaseEuropeSub18448C=0.721T=0.278
The Genome Aggregation DatabaseGlobalStudy-wide29902C=0.754T=0.245
The Genome Aggregation DatabaseOtherSub302C=0.740T=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.745T=0.254
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.699T=0.301
PMID Title Author Journal
18711365Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.Ferreira MANat Genet
23070075Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample.Green EKMol Psychiatry
19488044Genome-wide association study of bipolar disorder in European American and African American individuals.Smith ENMol Psychiatry
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
rs21728352.01E-07alcohol dependence23089632

eQTL of rs2172835 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 rs2172835 in Fetal Brain

Probe ID Position Gene beta p-value
cg21039679chr15:38989738C15orf53-0.02634622696685051.1108e-15

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 )
chr153896065238961725E068-28446
chr153896065238961725E069-28446
chr153896065238961725E070-28446
chr153894079638940926E071-49245
chr153900002839001434E0819857
chr153900646639007349E08116295
chr153896051838960573E082-29598
chr153896065238961725E082-28446