rs1864097

Homo sapiens
C>T
LOC105374660 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0260 (7793/29886,GnomAD)
C==0267 (7794/29118,TOPMED)
C==0241 (1205/5008,1000G)
C==0396 (1525/3854,ALSPAC)
C==0388 (1440/3708,TWINSUK)
chr5:13450684 (GRCh38.p7) (5p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.13450684C>T
GRCh37.p13 chr 5NC_000005.9:g.13450794C>T

Gene: LOC105374660, uncharacterized LOC105374660(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105374660 transcript variant X1XR_001742605.1:n.N/AIntron Variant
LOC105374660 transcript variant X2XR_001742606.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.064T=0.936
1000GenomesAmericanSub694C=0.380T=0.620
1000GenomesEast AsianSub1008C=0.180T=0.820
1000GenomesEuropeSub1006C=0.350T=0.650
1000GenomesGlobalStudy-wide5008C=0.241T=0.759
1000GenomesSouth AsianSub978C=0.330T=0.670
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.396T=0.604
The Genome Aggregation DatabaseAfricanSub8722C=0.103T=0.897
The Genome Aggregation DatabaseAmericanSub838C=0.370T=0.630
The Genome Aggregation DatabaseEast AsianSub1586C=0.197T=0.803
The Genome Aggregation DatabaseEuropeSub18440C=0.332T=0.667
The Genome Aggregation DatabaseGlobalStudy-wide29886C=0.260T=0.739
The Genome Aggregation DatabaseOtherSub300C=0.440T=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.267T=0.732
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.388T=0.612
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
rs18640970.000064alcohol dependence20201924
rs18640970.0000642alcoholismpha002893
rs18640970.00042alcohol dependence(early age of onset)20201924

eQTL of rs1864097 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 rs1864097 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.