rs1251179

Homo sapiens
A>G
LOC105373612 : Intron Variant
LOC151121 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0482 (14414/29878,GnomAD)
G=0492 (14333/29118,TOPMED)
G=0417 (2087/5008,1000G)
A==0477 (1838/3854,ALSPAC)
A==0492 (1825/3708,TWINSUK)
chr2:129246162 (GRCh38.p7) (2q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.129246162A>G
GRCh37.p13 chr 2NC_000002.11:g.130003735A>G

Gene: LOC151121, uncharacterized LOC151121(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LINC01854 transcript variant 1NR_122040.1:n.N/AIntron Variant
LINC01854 transcript variant 2NR_122041.1:n.N/AIntron Variant
LINC01854 transcript variant 3NR_122042.1:n.N/AIntron Variant

Gene: LOC105373612, uncharacterized LOC105373612(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373612 transcriptXR_001739709.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.548G=0.452
1000GenomesAmericanSub694A=0.560G=0.440
1000GenomesEast AsianSub1008A=0.748G=0.252
1000GenomesEuropeSub1006A=0.464G=0.536
1000GenomesGlobalStudy-wide5008A=0.583G=0.417
1000GenomesSouth AsianSub978A=0.600G=0.400
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.477G=0.523
The Genome Aggregation DatabaseAfricanSub8694A=0.535G=0.465
The Genome Aggregation DatabaseAmericanSub834A=0.560G=0.440
The Genome Aggregation DatabaseEast AsianSub1616A=0.802G=0.198
The Genome Aggregation DatabaseEuropeSub18432A=0.483G=0.516
The Genome Aggregation DatabaseGlobalStudy-wide29878A=0.517G=0.482
The Genome Aggregation DatabaseOtherSub302A=0.440G=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.507G=0.492
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.492G=0.508
PMID Title Author Journal
24962325Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.Kapoor MDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs12511791.25E-06alcohol dependence (age at onset)24962325

eQTL of rs1251179 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 rs1251179 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 )
chr2129990903129991022E070-12713
chr2129991443129991904E070-11831
chr2129990903129991022E081-12713
chr2129991443129991904E081-11831
chr2129996773129997036E081-6699
chr2130010223130010353E0816488
chr2130010398130011293E0816663
chr2130038915130039052E08135180
chr2130039472130039687E08135737
chr2130039843130039996E08136108
chr2130050579130050658E08146844
chr2130050695130050812E08146960
chr2129996773129997036E082-6699
chr2130010223130010353E0826488
chr2130038591130038845E08234856
chr2130038915130039052E08235180
chr2130039472130039687E08235737
chr2130039843130039996E08236108
chr2130050579130050658E08246844
chr2130050695130050812E08246960