rs1323838

Homo sapiens
T>C
DAB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0374 (11199/29902,GnomAD)
C=0362 (10556/29118,TOPMED)
C=0379 (1900/5008,1000G)
C=0415 (1601/3854,ALSPAC)
C=0418 (1549/3708,TWINSUK)
chr1:57791578 (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.57791578T>C
GRCh37.p13 chr 1NC_000001.10:g.58257250T>C
DAB1 RefSeqGeneNG_046914.1:g.463962A>G

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=0.721C=0.279
1000GenomesAmericanSub694T=0.690C=0.310
1000GenomesEast AsianSub1008T=0.658C=0.342
1000GenomesEuropeSub1006T=0.542C=0.458
1000GenomesGlobalStudy-wide5008T=0.621C=0.379
1000GenomesSouth AsianSub978T=0.480C=0.520
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.585C=0.415
The Genome Aggregation DatabaseAfricanSub8696T=0.725C=0.275
The Genome Aggregation DatabaseAmericanSub838T=0.700C=0.300
The Genome Aggregation DatabaseEast AsianSub1618T=0.648C=0.352
The Genome Aggregation DatabaseEuropeSub18448T=0.575C=0.424
The Genome Aggregation DatabaseGlobalStudy-wide29902T=0.625C=0.374
The Genome Aggregation DatabaseOtherSub302T=0.490C=0.510
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.637C=0.362
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.582C=0.418
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
rs13238382.41E-06alcohol dependence (age at onset)24962325

eQTL of rs1323838 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 rs1323838 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 )
chr15821445858214716E070-42534
chr15830491758305054E07047667
chr15830532558305379E07048075
chr15821445858214716E071-42534
chr15826108058261130E0813830
chr15826121458261264E0813964
chr15826235558262622E0815105
chr15826393458263994E0816684
chr15826406158264201E0816811
chr15826433358264655E0817083
chr15826470558264782E0817455
chr15826482858264954E0817578
chr15826506258265210E0817812
chr15826526758265698E0818017
chr15826614258266244E0818892
chr15826647458266570E0819224
chr15826665758266780E0819407
chr15826701558267133E0819765
chr15824525458245437E082-11813
chr15826235558262622E0825105
chr15826393458263994E0826684
chr15826614258266244E0828892
chr15826892458269013E08211674
chr15829238158292512E08235131
chr15829267058292748E08235420