rs648196

Homo sapiens
G>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0154 (4584/29640,GnomAD)
T=0137 (4011/29116,TOPMED)
T=0184 (920/5008,1000G)
T=0205 (791/3854,ALSPAC)
T=0210 (777/3708,TWINSUK)
chr2:4469921 (GRCh38.p7) (2p25.2)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.4469921G>T
GRCh37.p13 chr 2NC_000002.11:g.4517511G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.988T=0.012
1000GenomesAmericanSub694G=0.760T=0.240
1000GenomesEast AsianSub1008G=0.795T=0.205
1000GenomesEuropeSub1006G=0.788T=0.212
1000GenomesGlobalStudy-wide5008G=0.816T=0.184
1000GenomesSouth AsianSub978G=0.680T=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.795T=0.205
The Genome Aggregation DatabaseAfricanSub8592G=0.960T=0.040
The Genome Aggregation DatabaseAmericanSub832G=0.720T=0.280
The Genome Aggregation DatabaseEast AsianSub1608G=0.795T=0.205
The Genome Aggregation DatabaseEuropeSub18310G=0.803T=0.196
The Genome Aggregation DatabaseGlobalStudy-wide29640G=0.845T=0.154
The Genome Aggregation DatabaseOtherSub298G=0.700T=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29116G=0.862T=0.137
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.790T=0.210
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
rs6481960.000306alcohol dependence20201924

eQTL of rs648196 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 rs648196 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 )
chr245473724547502E06829861
chr245469994547348E07029488
chr245473724547502E07029861
chr245669614567087E08149450
chr245672574567343E08149746