rs7165988

Homo sapiens
C>G / C>T
C15orf53 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0249 (7467/29934,GnomAD)
G=0251 (7313/29118,TOPMED)
C==0271 (3521/12994,GO-ESP)
G=0194 (972/5008,1000G)
G=0313 (1207/3854,ALSPAC)
G=0316 (1172/3708,TWINSUK)
chr15:38696614 (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.38696614C>G
GRCh38.p7 chr 15NC_000015.10:g.38696614C>T
GRCh37.p13 chr 15NC_000015.9:g.38988815C>G
GRCh37.p13 chr 15NC_000015.9:g.38988815C>T

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

Molecule type Change Amino acid[Codon] SO Term
C15orf53 transcriptNM_207444.2:c.7C>GL [CTA]> V [GTA]Coding Sequence Variant
uncharacterized protein C15orf53NP_997327.1:p.Leu...NP_997327.1:p.Leu3ValL [Leu]> V [Val]Missense Variant
C15orf53 transcriptNM_207444.2:c.7C>TL [CTA]> L [TTA]Coding Sequence Variant
uncharacterized protein C15orf53NP_997327.1:p.Leu3=L [Leu]> L [Leu]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.825G=0.175
1000GenomesAmericanSub694C=0.750G=0.250
1000GenomesEast AsianSub1008C=0.901G=0.099
1000GenomesEuropeSub1006C=0.738G=0.262
1000GenomesGlobalStudy-wide5008C=0.806G=0.194
1000GenomesSouth AsianSub978C=0.800G=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.687G=0.313
The Genome Aggregation DatabaseAfricanSub8716C=0.805G=0.195
The Genome Aggregation DatabaseAmericanSub838C=0.740G=0.260
The Genome Aggregation DatabaseEast AsianSub1622C=0.908G=0.092
The Genome Aggregation DatabaseEuropeSub18458C=0.711G=0.288
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.750G=0.249
The Genome Aggregation DatabaseOtherSub300C=0.720G=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.748G=0.251
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.684G=0.316
PMID Title Author Journal
25505091JEPEG: a summary statistics based tool for gene-level joint testing of functional variants.Lee DBioinformatics
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
rs71659889.7E-08alcohol dependence23089632

eQTL of rs7165988 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 rs7165988 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