rs6783551

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0484 (14514/29946,GnomAD)
T==0420 (12237/29118,TOPMED)
T==0386 (1931/5008,1000G)
C=0323 (1245/3854,ALSPAC)
C=0337 (1250/3708,TWINSUK)
chr3:1943554 (GRCh38.p7) (3p26.3)
AD
GWASdb2
1   publication(s)
See rs on genome
6 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.1943554T>C
GRCh37.p13 chr 3NC_000003.11:g.1985238T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.056C=0.944
1000GenomesAmericanSub694T=0.410C=0.590
1000GenomesEast AsianSub1008T=0.481C=0.519
1000GenomesEuropeSub1006T=0.640C=0.360
1000GenomesGlobalStudy-wide5008T=0.386C=0.614
1000GenomesSouth AsianSub978T=0.450C=0.550
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.677C=0.323
The Genome Aggregation DatabaseAfricanSub8722T=0.152C=0.848
The Genome Aggregation DatabaseAmericanSub834T=0.460C=0.540
The Genome Aggregation DatabaseEast AsianSub1616T=0.514C=0.486
The Genome Aggregation DatabaseEuropeSub18474T=0.638C=0.361
The Genome Aggregation DatabaseGlobalStudy-wide29946T=0.484C=0.515
The Genome Aggregation DatabaseOtherSub300T=0.600C=0.400
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.420C=0.579
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.663C=0.337
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs67835510.000364alcohol dependence24277619

eQTL of rs6783551 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 rs6783551 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 )
chr319844601984745E070-493
chr319952861995344E07210048
chr319953541995561E07210116
chr319952861995344E08110048
chr319953541995561E08110116
chr319961151996184E08110877