rs178462

Homo sapiens
C>T
LOC107984134 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0139 (4162/29908,GnomAD)
T=0158 (4624/29118,TOPMED)
T=0162 (813/5008,1000G)
T=0139 (536/3854,ALSPAC)
T=0152 (564/3708,TWINSUK)
chr14:79984592 (GRCh38.p7) (14q31.1)
AD
GWASCatalog
1   publication(s)
See rs on genome
11 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.79984592C>T
GRCh37.p13 chr 14NC_000014.8:g.80450935C>T

Gene: LOC107984134, uncharacterized LOC107984134(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370590 transcriptXR_001751017.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.840T=0.160
1000GenomesAmericanSub694C=0.860T=0.140
1000GenomesEast AsianSub1008C=0.818T=0.182
1000GenomesEuropeSub1006C=0.840T=0.160
1000GenomesGlobalStudy-wide5008C=0.838T=0.162
1000GenomesSouth AsianSub978C=0.830T=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.861T=0.139
The Genome Aggregation DatabaseAfricanSub8716C=0.836T=0.164
The Genome Aggregation DatabaseAmericanSub838C=0.890T=0.110
The Genome Aggregation DatabaseEast AsianSub1598C=0.848T=0.152
The Genome Aggregation DatabaseEuropeSub18454C=0.872T=0.127
The Genome Aggregation DatabaseGlobalStudy-wide29908C=0.860T=0.139
The Genome Aggregation DatabaseOtherSub302C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.841T=0.158
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.848T=0.152
PMID Title Author Journal
29460428Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.Gelernter JAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs1784622E-06alcohol dependence29460428

eQTL of rs178462 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 rs178462 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 )
chr148047175280472450E06720817
chr148047157780471656E06820642
chr148047175280472450E06820817
chr148043774180437991E071-12944
chr148047175280472450E07120817
chr148047262080472670E07121685
chr148047175280472450E07220817
chr148047262080472670E07221685
chr148047299280473032E07222057
chr148047354080473580E07222605
chr148047175280472450E07420817