rs2496590

Homo sapiens
T>A / T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0432 (12938/29914,GnomAD)
T==0418 (12172/29118,TOPMED)
C=0478 (2394/5008,1000G)
T==0471 (1817/3854,ALSPAC)
T==0472 (1751/3708,TWINSUK)
chr6:143414625 (GRCh38.p7) (6q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.143414625T>A
GRCh38.p7 chr 6NC_000006.12:g.143414625T>C
GRCh37.p13 chr 6NC_000006.11:g.143735762T>A
GRCh37.p13 chr 6NC_000006.11:g.143735762T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.338C=0.662
1000GenomesAmericanSub694T=0.400C=0.600
1000GenomesEast AsianSub1008T=0.816C=0.184
1000GenomesEuropeSub1006T=0.441C=0.559
1000GenomesGlobalStudy-wide5008T=0.522C=0.478
1000GenomesSouth AsianSub978T=0.640C=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.471C=0.529
The Genome Aggregation DatabaseAfricanSub8704T=0.373C=0.627
The Genome Aggregation DatabaseAmericanSub834T=0.450C=0.550
The Genome Aggregation DatabaseEast AsianSub1614T=0.816C=0.184
The Genome Aggregation DatabaseEuropeSub18460T=0.427C=0.572
The Genome Aggregation DatabaseGlobalStudy-wide29914T=0.432C=0.567
The Genome Aggregation DatabaseOtherSub302T=0.360C=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.418C=0.582
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.472C=0.528
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs24965900.000641alcohol dependence21314694

eQTL of rs2496590 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:143735762ADAT2ENSG00000189007.11T>C1.4247e-8-36048Cerebellum
Chr6:143735762ADAT2ENSG00000189007.11T>C5.5145e-3-36048Cortex
Chr6:143735762ADAT2ENSG00000189007.11T>C1.0962e-4-36048Cerebellar_Hemisphere

meQTL of rs2496590 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.