rs9949713

Homo sapiens
G>A / G>T
None
Check p-value
SNV (Single Nucleotide Variation)
A=0142 (4257/29960,GnomAD)
A=0148 (4333/29118,TOPMED)
A=0108 (540/5008,1000G)
A=0120 (463/3854,ALSPAC)
A=0120 (445/3708,TWINSUK)
chr18:10142326 (GRCh38.p7) (18p11.22)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.10142326G>A
GRCh38.p7 chr 18NC_000018.10:g.10142326G>T
GRCh37.p13 chr 18NC_000018.9:g.10142323G>A
GRCh37.p13 chr 18NC_000018.9:g.10142323G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.750A=0.250
1000GenomesAmericanSub694G=0.910A=0.090
1000GenomesEast AsianSub1008G=1.000A=0.000
1000GenomesEuropeSub1006G=0.885A=0.115
1000GenomesGlobalStudy-wide5008G=0.892A=0.108
1000GenomesSouth AsianSub978G=0.970A=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.880A=0.120
The Genome Aggregation DatabaseAfricanSub8706G=0.782T=0.000
The Genome Aggregation DatabaseAmericanSub838G=0.940T=0.00,
The Genome Aggregation DatabaseEast AsianSub1622G=0.999T=0.000
The Genome Aggregation DatabaseEuropeSub18492G=0.876T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29960G=0.857T=0.000
The Genome Aggregation DatabaseOtherSub302G=0.900T=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.851A=0.148
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.880A=0.120
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
rs99497130.00094alcohol dependence20201924

eQTL of rs9949713 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 rs9949713 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.