rs548172

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0159 (4780/29918,GnomAD)
C=0132 (3849/29118,TOPMED)
C=0162 (809/5008,1000G)
C=0183 (705/3854,ALSPAC)
C=0188 (698/3708,TWINSUK)
chr4:134765322 (GRCh38.p7) (4q28.3)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.134765322T>C
GRCh37.p13 chr 4NC_000004.11:g.135686477T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.902C=0.098
1000GenomesAmericanSub694T=0.920C=0.080
1000GenomesEast AsianSub1008T=0.812C=0.188
1000GenomesEuropeSub1006T=0.819C=0.181
1000GenomesGlobalStudy-wide5008T=0.838C=0.162
1000GenomesSouth AsianSub978T=0.740C=0.260
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.817C=0.183
The Genome Aggregation DatabaseAfricanSub8724T=0.899C=0.101
The Genome Aggregation DatabaseAmericanSub830T=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1616T=0.832C=0.168
The Genome Aggregation DatabaseEuropeSub18446T=0.811C=0.188
The Genome Aggregation DatabaseGlobalStudy-wide29918T=0.840C=0.159
The Genome Aggregation DatabaseOtherSub302T=0.770C=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.867C=0.132
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.812C=0.188
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
rs5481720.000943alcohol dependence24277619

eQTL of rs548172 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 rs548172 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 )
chr4135638568135638990E081-47487
chr4135675404135676126E081-10351
chr4135675404135676126E082-10351