rs923542

Homo sapiens
C>A
LOC105373220 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0150 (4496/29926,GnomAD)
C==0153 (4471/29116,TOPMED)
C==0101 (505/5008,1000G)
C==0221 (850/3854,ALSPAC)
C==0210 (778/3708,TWINSUK)
chr1:238396597 (GRCh38.p7) (1q43)
AD
GWASdb2
1   publication(s)
See rs on genome
22 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.238396597C>A
GRCh37.p13 chr 1NC_000001.10:g.238559897C>A

Gene: LOC105373220, uncharacterized LOC105373220(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373220 transcript variant X1XR_949308.2:n.N/AIntron Variant
LOC105373220 transcript variant X2XR_949311.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.089A=0.911
1000GenomesAmericanSub694C=0.100A=0.900
1000GenomesEast AsianSub1008C=0.061A=0.939
1000GenomesEuropeSub1006C=0.164A=0.836
1000GenomesGlobalStudy-wide5008C=0.101A=0.899
1000GenomesSouth AsianSub978C=0.100A=0.900
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.221A=0.779
The Genome Aggregation DatabaseAfricanSub8718C=0.110A=0.890
The Genome Aggregation DatabaseAmericanSub836C=0.100A=0.900
The Genome Aggregation DatabaseEast AsianSub1622C=0.062A=0.938
The Genome Aggregation DatabaseEuropeSub18448C=0.179A=0.820
The Genome Aggregation DatabaseGlobalStudy-wide29926C=0.150A=0.849
The Genome Aggregation DatabaseOtherSub302C=0.100A=0.900
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.153A=0.846
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.210A=0.790
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs9235422.12E-05alcohol consumption23953852

eQTL of rs923542 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 rs923542 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 )
chr1238567848238568032E0677951
chr1238569176238569226E0679279
chr1238569470238569797E0679573
chr1238569889238570130E0679992
chr1238567848238568032E0697951
chr1238568344238568515E0698447
chr1238569176238569226E0699279
chr1238569470238569797E0699573
chr1238569889238570130E0699992
chr1238567848238568032E0717951
chr1238568344238568515E0718447
chr1238569176238569226E0719279
chr1238569470238569797E0719573
chr1238569889238570130E0719992
chr1238567848238568032E0727951
chr1238568344238568515E0728447
chr1238569176238569226E0729279
chr1238569470238569797E0729573
chr1238569889238570130E0729992
chr1238569176238569226E0749279
chr1238569470238569797E0749573
chr1238569889238570130E0749992