rs12568292

Homo sapiens
C>A
DAB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0375 (11229/29892,GnomAD)
A=0363 (10591/29118,TOPMED)
A=0380 (1902/5008,1000G)
A=0416 (1604/3854,ALSPAC)
A=0417 (1546/3708,TWINSUK)
chr1:57790519 (GRCh38.p7) (1p32.2)
AD
GWASdb2
1   publication(s)
See rs on genome
25 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.57790519C>A
GRCh37.p13 chr 1NC_000001.10:g.58256191C>A
DAB1 RefSeqGeneNG_046914.1:g.465021G>T

Gene: DAB1, DAB1, reelin adaptor protein(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DAB1 transcriptNM_021080.3:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.720A=0.280
1000GenomesAmericanSub694C=0.690A=0.310
1000GenomesEast AsianSub1008C=0.658A=0.342
1000GenomesEuropeSub1006C=0.542A=0.458
1000GenomesGlobalStudy-wide5008C=0.620A=0.380
1000GenomesSouth AsianSub978C=0.480A=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.584A=0.416
The Genome Aggregation DatabaseAfricanSub8696C=0.722A=0.278
The Genome Aggregation DatabaseAmericanSub832C=0.700A=0.300
The Genome Aggregation DatabaseEast AsianSub1606C=0.648A=0.352
The Genome Aggregation DatabaseEuropeSub18460C=0.575A=0.424
The Genome Aggregation DatabaseGlobalStudy-wide29892C=0.624A=0.375
The Genome Aggregation DatabaseOtherSub298C=0.490A=0.510
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.636A=0.363
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.583A=0.417
PMID Title Author Journal
24962325Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.Kapoor MDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs125682924.04E-06alcohol dependence (age at onset)24962325

eQTL of rs12568292 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 rs12568292 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 )
chr15821445858214716E070-41475
chr15830491758305054E07048726
chr15830532558305379E07049134
chr15821445858214716E071-41475
chr15826108058261130E0814889
chr15826121458261264E0815023
chr15826235558262622E0816164
chr15826393458263994E0817743
chr15826406158264201E0817870
chr15826433358264655E0818142
chr15826470558264782E0818514
chr15826482858264954E0818637
chr15826506258265210E0818871
chr15826526758265698E0819076
chr15826614258266244E0819951
chr15826647458266570E08110283
chr15826665758266780E08110466
chr15826701558267133E08110824
chr15824525458245437E082-10754
chr15826235558262622E0826164
chr15826393458263994E0827743
chr15826614258266244E0829951
chr15826892458269013E08212733
chr15829238158292512E08236190
chr15829267058292748E08236479