rs516609

Homo sapiens
C>A / C>G / C>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0166 (4967/29888,GnomAD)
T=0205 (5987/29118,TOPMED)
T=0153 (768/5008,1000G)
T=0134 (515/3854,ALSPAC)
T=0125 (464/3708,TWINSUK)
chr9:75454763 (GRCh38.p7) (9q21.13)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.75454763C>A
GRCh38.p7 chr 9NC_000009.12:g.75454763C>G
GRCh38.p7 chr 9NC_000009.12:g.75454763C>T
GRCh37.p13 chr 9NC_000009.11:g.78069679C>A
GRCh37.p13 chr 9NC_000009.11:g.78069679C>G
GRCh37.p13 chr 9NC_000009.11:g.78069679C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.688T=0.312
1000GenomesAmericanSub694C=0.790T=0.210
1000GenomesEast AsianSub1008C=0.998T=0.002
1000GenomesEuropeSub1006C=0.874T=0.126
1000GenomesGlobalStudy-wide5008C=0.847T=0.153
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.866T=0.134
The Genome Aggregation DatabaseAfricanSub8684C=0.710T=0.290
The Genome Aggregation DatabaseAmericanSub836C=0.820T=0.180
The Genome Aggregation DatabaseEast AsianSub1606C=0.997T=0.003
The Genome Aggregation DatabaseEuropeSub18460C=0.876T=0.123
The Genome Aggregation DatabaseGlobalStudy-wide29888C=0.833T=0.166
The Genome Aggregation DatabaseOtherSub302C=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.794T=0.205
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.875T=0.125
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
rs5166091.35E-05alcohol dependence23089632

eQTL of rs516609 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 rs516609 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr97804462078045384E06816157
chr97806067978060775E06832216
chr97804462078045384E06916157
chr97802933278029673E071869
chr97802969678030209E0711233
chr97804462078045384E07116157
chr97804545678045551E07116993
chr97804570478045754E07117241
chr97806286178062990E07134398
chr97806308878063775E07134625
chr97804462078045384E07216157