rs1372680

Homo sapiens
C>A
LOC102723576 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0108 (3222/29734,GnomAD)
A=0088 (2575/29118,TOPMED)
A=0106 (533/5008,1000G)
A=0095 (365/3854,ALSPAC)
A=0102 (377/3708,TWINSUK)
chr4:99383388 (GRCh38.p7) (4q23)
AD
GWASCatalog
2   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 4NC_000004.12:g.99383388C>A
GRCh37.p13 chr 4NC_000004.11:g.100304545C>A

Gene: LOC102723576, uncharacterized LOC102723576(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC102723576 transcript variant X1XR_427569.3:n.151...XR_427569.3:n.1517G>TG>TNon Coding Transcript Variant
LOC102723576 transcript variant X3XR_001741777.1:n....XR_001741777.1:n.989G>TG>TNon Coding Transcript Variant
LOC102723576 transcript variant X2XR_939020.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.942A=0.058
1000GenomesAmericanSub694C=0.860A=0.140
1000GenomesEast AsianSub1008C=0.828A=0.172
1000GenomesEuropeSub1006C=0.904A=0.096
1000GenomesGlobalStudy-wide5008C=0.894A=0.106
1000GenomesSouth AsianSub978C=0.910A=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.905A=0.095
The Genome Aggregation DatabaseAfricanSub8630C=0.924A=0.076
The Genome Aggregation DatabaseAmericanSub828C=0.890A=0.110
The Genome Aggregation DatabaseEast AsianSub1592C=0.862A=0.138
The Genome Aggregation DatabaseEuropeSub18382C=0.878A=0.122
The Genome Aggregation DatabaseGlobalStudy-wide29734C=0.891A=0.108
The Genome Aggregation DatabaseOtherSub302C=0.980A=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.911A=0.088
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.898A=0.102
PMID Title Author Journal
22004471Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.Frank JAddict Biol
28714907Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.Treutlein JGenes (Basel)

P-Value

SNP ID p-value Traits Study
rs13726803E-06alcohol dependence28714907

eQTL of rs1372680 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 rs1372680 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.