rs12565523

Homo sapiens
T>G
DAB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0375 (11237/29922,GnomAD)
G=0363 (10591/29118,TOPMED)
G=0380 (1902/5008,1000G)
G=0416 (1603/3854,ALSPAC)
G=0417 (1545/3708,TWINSUK)
chr1:57790476 (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.57790476T>G
GRCh37.p13 chr 1NC_000001.10:g.58256148T>G
DAB1 RefSeqGeneNG_046914.1:g.465064A>C

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
1000GenomesAfricanSub1322T=0.720G=0.280
1000GenomesAmericanSub694T=0.690G=0.310
1000GenomesEast AsianSub1008T=0.658G=0.342
1000GenomesEuropeSub1006T=0.542G=0.458
1000GenomesGlobalStudy-wide5008T=0.620G=0.380
1000GenomesSouth AsianSub978T=0.480G=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.584G=0.416
The Genome Aggregation DatabaseAfricanSub8706T=0.722G=0.278
The Genome Aggregation DatabaseAmericanSub838T=0.700G=0.300
The Genome Aggregation DatabaseEast AsianSub1606T=0.647G=0.353
The Genome Aggregation DatabaseEuropeSub18472T=0.575G=0.424
The Genome Aggregation DatabaseGlobalStudy-wide29922T=0.624G=0.375
The Genome Aggregation DatabaseOtherSub300T=0.500G=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.636G=0.363
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.583G=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
rs125655234.04E-06alcohol dependence (age at onset)24962325

eQTL of rs12565523 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 rs12565523 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 )
chr15821445858214716E070-41432
chr15830491758305054E07048769
chr15830532558305379E07049177
chr15821445858214716E071-41432
chr15826108058261130E0814932
chr15826121458261264E0815066
chr15826235558262622E0816207
chr15826393458263994E0817786
chr15826406158264201E0817913
chr15826433358264655E0818185
chr15826470558264782E0818557
chr15826482858264954E0818680
chr15826506258265210E0818914
chr15826526758265698E0819119
chr15826614258266244E0819994
chr15826647458266570E08110326
chr15826665758266780E08110509
chr15826701558267133E08110867
chr15824525458245437E082-10711
chr15826235558262622E0826207
chr15826393458263994E0827786
chr15826614258266244E0829994
chr15826892458269013E08212776
chr15829238158292512E08236233
chr15829267058292748E08236522