rs6723180

Homo sapiens
A>G
LOC105373402 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0466 (13869/29764,GnomAD)
A==0498 (14521/29116,TOPMED)
G=0364 (1821/5008,1000G)
G=0478 (1841/3854,ALSPAC)
G=0483 (1792/3708,TWINSUK)
chr2:6411725 (GRCh38.p7) (2p25.2)
AD
GWASdb2
1   publication(s)
See rs on genome
18 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.6411725A>G
GRCh37.p13 chr 2NC_000002.11:g.6551857A>G

Gene: LOC105373402, uncharacterized LOC105373402(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373402 transcriptXR_922743.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.440G=0.560
1000GenomesAmericanSub694A=0.680G=0.320
1000GenomesEast AsianSub1008A=0.835G=0.165
1000GenomesEuropeSub1006A=0.514G=0.486
1000GenomesGlobalStudy-wide5008A=0.636G=0.364
1000GenomesSouth AsianSub978A=0.790G=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.522G=0.478
The Genome Aggregation DatabaseAfricanSub8648A=0.433G=0.567
The Genome Aggregation DatabaseAmericanSub838A=0.680G=0.320
The Genome Aggregation DatabaseEast AsianSub1610A=0.832G=0.168
The Genome Aggregation DatabaseEuropeSub18366A=0.546G=0.453
The Genome Aggregation DatabaseGlobalStudy-wide29764A=0.534G=0.466
The Genome Aggregation DatabaseOtherSub302A=0.680G=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.498G=0.501
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.517G=0.483
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
rs67231800.00059alcohol dependence20201924

eQTL of rs6723180 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 rs6723180 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 )
chr265825506582644E07030693
chr265827566583006E07030899
chr265831926583522E07031335
chr265836956583797E07031838
chr265110126511120E071-40737
chr265110126511120E074-40737
chr265890266589115E07437169
chr265891546589271E07437297
chr265894026589466E07437545
chr265896166589782E07437759
chr265638266564093E08111969
chr265642166564384E08112359
chr265645436564611E08112686
chr265613786561428E0829521
chr265638266564093E08211969
chr265642166564384E08212359
chr265896166589782E08237759
chr265900096590295E08238152