rs1030547

Homo sapiens
G>A
LOC105375911 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0411 (12281/29864,GnomAD)
A=0462 (2315/5008,1000G)
A=0306 (1180/3854,ALSPAC)
A=0309 (1145/3708,TWINSUK)
chr8:78273988 (GRCh38.p7) (8q21.13)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.78273988G>A
GRCh37.p13 chr 8NC_000008.10:g.79186223G>A

Gene: LOC105375911, uncharacterized LOC105375911(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105375911 transcriptXR_001745972.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.284A=0.716
1000GenomesAmericanSub694G=0.680A=0.320
1000GenomesEast AsianSub1008G=0.636A=0.364
1000GenomesEuropeSub1006G=0.704A=0.296
1000GenomesGlobalStudy-wide5008G=0.538A=0.462
1000GenomesSouth AsianSub978G=0.510A=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.694A=0.306
The Genome Aggregation DatabaseAfricanSub8712G=0.344A=0.656
The Genome Aggregation DatabaseAmericanSub830G=0.750A=0.250
The Genome Aggregation DatabaseEast AsianSub1614G=0.660A=0.340
The Genome Aggregation DatabaseEuropeSub18410G=0.691A=0.308
The Genome Aggregation DatabaseGlobalStudy-wide29864G=0.588A=0.411
The Genome Aggregation DatabaseOtherSub298G=0.560A=0.440
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.691A=0.309
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
rs10305470.0003alcohol dependence(early age of onset)20201924
rs10305470.00077alcohol dependence20201924

eQTL of rs1030547 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 rs1030547 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 )
chr87914406879144138E068-42085
chr87914145579142604E070-43619
chr87914406879144138E070-42085
chr87914504779145141E070-41082
chr87914516679145230E070-40993
chr87921573179215836E07029508
chr87921589579215975E07029672
chr87914376579144006E073-42217
chr87914406879144138E073-42085
chr87914328279143732E081-42491
chr87914376579144006E081-42217
chr87914406879144138E081-42085
chr87914429279144913E081-41310
chr87914494279145042E081-41181
chr87921573179215836E08129508
chr87921589579215975E08129672