rs13280598

Homo sapiens
C>A
LOC105375821 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0037 (1135/29980,GnomAD)
A=0033 (975/29118,TOPMED)
A=0042 (208/5008,1000G)
A=0053 (206/3854,ALSPAC)
A=0047 (175/3708,TWINSUK)
chr8:48452320 (GRCh38.p7) (8q11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
83 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.48452320C>A
GRCh37.p13 chr 8NC_000008.10:g.49364880C>A

Gene: LOC105375821, uncharacterized LOC105375821(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105375821 transcript variant X1XR_001745891.1:n.N/AIntron Variant
LOC105375821 transcript variant X2XR_001745892.1:n.N/AIntron Variant
LOC105375821 transcript variant X3XR_001745893.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.998A=0.002
1000GenomesAmericanSub694C=0.980A=0.020
1000GenomesEast AsianSub1008C=1.000A=0.000
1000GenomesEuropeSub1006C=0.951A=0.049
1000GenomesGlobalStudy-wide5008C=0.958A=0.042
1000GenomesSouth AsianSub978C=0.860A=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.947A=0.053
The Genome Aggregation DatabaseAfricanSub8728C=0.992A=0.008
The Genome Aggregation DatabaseAmericanSub838C=0.980A=0.020
The Genome Aggregation DatabaseEast AsianSub1620C=0.999A=0.001
The Genome Aggregation DatabaseEuropeSub18492C=0.944A=0.056
The Genome Aggregation DatabaseGlobalStudy-wide29980C=0.962A=0.037
The Genome Aggregation DatabaseOtherSub302C=0.970A=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.966A=0.033
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.953A=0.047
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
rs132805980.00057alcohol dependence20201924

eQTL of rs13280598 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 rs13280598 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 )
chr84933975949339835E067-25045
chr84933984049339981E067-24899
chr84934002049340441E067-24439
chr84934047049341670E067-23210
chr84934169149341771E067-23109
chr84934188549345109E067-19771
chr84933093049331248E068-33632
chr84934002049340441E068-24439
chr84934047049341670E068-23210
chr84934169149341771E068-23109
chr84934188549345109E068-19771
chr84941341749413627E06848537
chr84941386849413999E06848988
chr84934002049340441E069-24439
chr84934047049341670E069-23210
chr84934169149341771E069-23109
chr84934188549345109E069-19771
chr84931874949318852E071-46028
chr84931890649319573E071-45307
chr84933093049331248E071-33632
chr84933131049332029E071-32851
chr84933975949339835E071-25045
chr84933984049339981E071-24899
chr84934002049340441E071-24439
chr84934188549345109E071-19771
chr84933131049332029E072-32851
chr84933975949339835E072-25045
chr84933984049339981E072-24899
chr84934002049340441E072-24439
chr84934047049341670E072-23210
chr84934188549345109E072-19771
chr84934521249345316E072-19564
chr84934547449345576E072-19304
chr84933093049331248E073-33632
chr84933131049332029E073-32851
chr84933950749339615E073-25265
chr84933975949339835E073-25045
chr84933984049339981E073-24899
chr84934002049340441E073-24439
chr84934047049341670E073-23210
chr84934169149341771E073-23109
chr84934188549345109E073-19771
chr84934521249345316E073-19564
chr84934547449345576E073-19304
chr84934575849345896E073-18984
chr84934591449345985E073-18895
chr84934603749346197E073-18683
chr84934620349346317E073-18563
chr84933932149339416E074-25464
chr84933950749339615E074-25265
chr84933975949339835E074-25045
chr84933984049339981E074-24899
chr84934002049340441E074-24439
chr84934047049341670E074-23210
chr84934169149341771E074-23109
chr84934521249345316E074-19564
chr84934547449345576E074-19304
chr84934575849345896E074-18984
chr84934591449345985E074-18895
chr84934603749346197E074-18683
chr84931488849315371E081-49509
chr84933237549333771E081-31109
chr84933388049334457E081-30423
chr84933457349334623E081-30257
chr84933488649334956E081-29924
chr84933921049339294E081-25586
chr84933932149339416E081-25464
chr84933950749339615E081-25265
chr84933975949339835E081-25045
chr84933984049339981E081-24899
chr84934002049340441E081-24439
chr84934047049341670E081-23210
chr84934169149341771E081-23109
chr84934188549345109E081-19771
chr84933388049334457E082-30423
chr84933921049339294E082-25586
chr84933932149339416E082-25464
chr84933950749339615E082-25265
chr84933975949339835E082-25045
chr84933984049339981E082-24899
chr84934002049340441E082-24439
chr84934047049341670E082-23210
chr84934169149341771E082-23109