rs7299475

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0101 (3038/29960,GnomAD)
G=0118 (3435/29118,TOPMED)
G=0091 (458/5008,1000G)
G=0077 (297/3854,ALSPAC)
G=0090 (335/3708,TWINSUK)
chr12:101550400 (GRCh38.p7) (12q23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.101550400A>G
GRCh37.p13 chr 12NC_000012.11:g.101944178A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.824G=0.176
1000GenomesAmericanSub694A=0.950G=0.050
1000GenomesEast AsianSub1008A=0.937G=0.063
1000GenomesEuropeSub1006A=0.926G=0.074
1000GenomesGlobalStudy-wide5008A=0.909G=0.091
1000GenomesSouth AsianSub978A=0.950G=0.050
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.923G=0.077
The Genome Aggregation DatabaseAfricanSub8708A=0.837G=0.163
The Genome Aggregation DatabaseAmericanSub838A=0.930G=0.070
The Genome Aggregation DatabaseEast AsianSub1616A=0.949G=0.051
The Genome Aggregation DatabaseEuropeSub18496A=0.923G=0.076
The Genome Aggregation DatabaseGlobalStudy-wide29960A=0.898G=0.101
The Genome Aggregation DatabaseOtherSub302A=0.790G=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.882G=0.118
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.910G=0.090
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
rs72994750.000747alcohol dependence21314694

eQTL of rs7299475 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 rs7299475 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 )
chr12101955455101955630E08111277
chr12101955753101955892E08111575