rs12724903

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0052 (1560/29932,GnomAD)
C=0035 (1026/29118,TOPMED)
C=0020 (100/5008,1000G)
C=0063 (243/3854,ALSPAC)
C=0073 (270/3708,TWINSUK)
chr1:158609075 (GRCh38.p7) (1q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.158609075A>C
GRCh37.p13 chr 1NC_000001.10:g.158578865A>C
SPTA1 RefSeqGeneNG_011474.1:g.82642T>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.998C=0.002
1000GenomesAmericanSub694A=0.980C=0.020
1000GenomesEast AsianSub1008A=1.000C=0.000
1000GenomesEuropeSub1006A=0.933C=0.067
1000GenomesGlobalStudy-wide5008A=0.980C=0.020
1000GenomesSouth AsianSub978A=0.980C=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.937C=0.063
The Genome Aggregation DatabaseAfricanSub8720A=0.989C=0.011
The Genome Aggregation DatabaseAmericanSub838A=0.960C=0.040
The Genome Aggregation DatabaseEast AsianSub1606A=0.997C=0.003
The Genome Aggregation DatabaseEuropeSub18466A=0.923C=0.076
The Genome Aggregation DatabaseGlobalStudy-wide29932A=0.947C=0.052
The Genome Aggregation DatabaseOtherSub302A=0.960C=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.964C=0.035
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.927C=0.073
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
rs127249030.00013alcohol dependence20201924

eQTL of rs12724903 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 rs12724903 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.