rs7554147

Homo sapiens
T>C
DAB1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0444 (13276/29898,GnomAD)
C=0471 (13730/29118,TOPMED)
C=0453 (2267/5008,1000G)
C=0416 (1604/3854,ALSPAC)
C=0418 (1551/3708,TWINSUK)
chr1:57791915 (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.57791915T>C
GRCh37.p13 chr 1NC_000001.10:g.58257587T>C
DAB1 RefSeqGeneNG_046914.1:g.463625A>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=0.458C=0.542
1000GenomesAmericanSub694T=0.670C=0.330
1000GenomesEast AsianSub1008T=0.658C=0.342
1000GenomesEuropeSub1006T=0.541C=0.459
1000GenomesGlobalStudy-wide5008T=0.547C=0.453
1000GenomesSouth AsianSub978T=0.470C=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.584C=0.416
The Genome Aggregation DatabaseAfricanSub8700T=0.489C=0.511
The Genome Aggregation DatabaseAmericanSub836T=0.690C=0.310
The Genome Aggregation DatabaseEast AsianSub1612T=0.647C=0.353
The Genome Aggregation DatabaseEuropeSub18448T=0.574C=0.425
The Genome Aggregation DatabaseGlobalStudy-wide29898T=0.556C=0.444
The Genome Aggregation DatabaseOtherSub302T=0.490C=0.510
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.528C=0.471
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
rs75541472.41E-06alcohol dependence (age at onset)24962325

eQTL of rs7554147 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 rs7554147 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 )
chr15821445858214716E070-42871
chr15830491758305054E07047330
chr15830532558305379E07047738
chr15821445858214716E071-42871
chr15826108058261130E0813493
chr15826121458261264E0813627
chr15826235558262622E0814768
chr15826393458263994E0816347
chr15826406158264201E0816474
chr15826433358264655E0816746
chr15826470558264782E0817118
chr15826482858264954E0817241
chr15826506258265210E0817475
chr15826526758265698E0817680
chr15826614258266244E0818555
chr15826647458266570E0818887
chr15826665758266780E0819070
chr15826701558267133E0819428
chr15824525458245437E082-12150
chr15826235558262622E0824768
chr15826393458263994E0826347
chr15826614258266244E0828555
chr15826892458269013E08211337
chr15829238158292512E08234794
chr15829267058292748E08235083