rs7378969

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
T==0391 (11716/29904,GnomAD)
T==0421 (12261/29118,TOPMED)
T==0411 (2059/5008,1000G)
T==0363 (1400/3854,ALSPAC)
T==0364 (1348/3708,TWINSUK)
chr5:50471925 (GRCh38.p7) (5q11.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
11 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.50471925T>C
GRCh37.p13 chr 5NC_000005.9:g.49767759T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.507C=0.493
1000GenomesAmericanSub694T=0.330C=0.670
1000GenomesEast AsianSub1008T=0.473C=0.527
1000GenomesEuropeSub1006T=0.330C=0.670
1000GenomesGlobalStudy-wide5008T=0.411C=0.589
1000GenomesSouth AsianSub978T=0.360C=0.640
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.363C=0.637
The Genome Aggregation DatabaseAfricanSub8706T=0.520C=0.480
The Genome Aggregation DatabaseAmericanSub838T=0.340C=0.660
The Genome Aggregation DatabaseEast AsianSub1608T=0.515C=0.485
The Genome Aggregation DatabaseEuropeSub18450T=0.324C=0.675
The Genome Aggregation DatabaseGlobalStudy-wide29904T=0.391C=0.608
The Genome Aggregation DatabaseOtherSub302T=0.320C=0.680
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.421C=0.578
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.364C=0.636
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs73789690.0000604alcoholismpha002891
rs73789690.0000604alcohol dependence20201924

eQTL of rs7378969 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 rs7378969 in Fetal Brain

Probe ID Position Gene beta p-value
cg15950743chr5:49708521EMB-0.088830637498681.0654e-35

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr54973639049737792E067-29967
chr54973639049737792E068-29967
chr54973639049737792E069-29967
chr54973585349736086E071-31673
chr54973612149736295E071-31464
chr54973639049737792E071-29967
chr54973585349736086E072-31673
chr54973612149736295E072-31464
chr54973639049737792E072-29967
chr54973639049737792E073-29967
chr54973639049737792E082-29967