rs12597282

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0290 (8688/29928,GnomAD)
T==0373 (10887/29118,TOPMED)
T==0261 (1308/5008,1000G)
T==0180 (693/3854,ALSPAC)
T==0174 (646/3708,TWINSUK)
chr16:7794410 (GRCh38.p7) (16p13.3)
AD
GWASCatalog
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.7794410T>C
GRCh37.p13 chr 16NC_000016.9:g.7844412T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.683C=0.317
1000GenomesAmericanSub694T=0.150C=0.850
1000GenomesEast AsianSub1008T=0.019C=0.981
1000GenomesEuropeSub1006T=0.144C=0.856
1000GenomesGlobalStudy-wide5008T=0.261C=0.739
1000GenomesSouth AsianSub978T=0.140C=0.860
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.180C=0.820
The Genome Aggregation DatabaseAfricanSub8704T=0.637C=0.363
The Genome Aggregation DatabaseAmericanSub832T=0.140C=0.860
The Genome Aggregation DatabaseEast AsianSub1616T=0.032C=0.968
The Genome Aggregation DatabaseEuropeSub18474T=0.158C=0.841
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.290C=0.709
The Genome Aggregation DatabaseOtherSub302T=0.170C=0.830
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.373C=0.626
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.174C=0.826
PMID Title Author Journal
29071344Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.Zhou HJAMA Psychiatry

P-Value

SNP ID p-value Traits Study
rs125972827E-06alcohol dependence29071344

eQTL of rs12597282 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 rs12597282 in Fetal Brain

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

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 )
chr1677945607795609E067-48803
chr1677959737796042E067-48370
chr1677945607795609E068-48803
chr1677959737796042E068-48370
chr1677945607795609E069-48803
chr1677959737796042E069-48370
chr1677945607795609E070-48803
chr1677959737796042E070-48370
chr1677965277796665E070-47747
chr1677966967796782E070-47630
chr1677969387797313E070-47099
chr1678056867805786E070-38626
chr1678929417893823E07048529
chr1678940247894161E07049612
chr1678942157894265E07049803
chr1677945607795609E071-48803
chr1677945607795609E072-48803
chr1677945607795609E073-48803
chr1677959737796042E073-48370
chr1677945607795609E074-48803
chr1677945607795609E081-48803
chr1677959737796042E081-48370
chr1677965277796665E081-47747
chr1677966967796782E081-47630
chr1677969387797313E081-47099
chr1678365367836658E081-7754
chr1678369237837101E081-7311
chr1678929417893823E08148529
chr1678940247894161E08149612
chr1677945607795609E082-48803
chr1677969387797313E082-47099
chr1678929417893823E08248529