rs475048

Homo sapiens
T>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0480 (14379/29912,GnomAD)
A=0426 (12408/29118,TOPMED)
T==0470 (2355/5008,1000G)
A=0496 (1913/3854,ALSPAC)
T==0489 (1815/3708,TWINSUK)
chr7:54641780 (GRCh38.p7) (7p11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.54641780T>A
GRCh37.p13 chr 7NC_000007.13:g.54709473T>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.738A=0.262
1000GenomesAmericanSub694T=0.430A=0.570
1000GenomesEast AsianSub1008T=0.153A=0.847
1000GenomesEuropeSub1006T=0.475A=0.525
1000GenomesGlobalStudy-wide5008T=0.470A=0.530
1000GenomesSouth AsianSub978T=0.460A=0.540
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.504A=0.496
The Genome Aggregation DatabaseAfricanSub8694T=0.686A=0.314
The Genome Aggregation DatabaseAmericanSub834T=0.370A=0.630
The Genome Aggregation DatabaseEast AsianSub1616T=0.153A=0.847
The Genome Aggregation DatabaseEuropeSub18468T=0.478A=0.521
The Genome Aggregation DatabaseGlobalStudy-wide29912T=0.519A=0.480
The Genome Aggregation DatabaseOtherSub300T=0.560A=0.440
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.573A=0.426
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.489A=0.511
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs4750480.000891alcohol dependence21314694

eQTL of rs475048 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 rs475048 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 )
chr75475705754757169E07347584
chr75473137754731470E08121904
chr75475722554757423E08147752
chr75475742954757671E08147956


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr75473158654732791E06722113
chr75473158654732791E06822113
chr75473158654732791E06922113
chr75473158654732791E07022113
chr75473158654732791E07122113
chr75473158654732791E07222113
chr75473158654732791E07322113
chr75473158654732791E07422113
chr75473158654732791E08122113
chr75473158654732791E08222113