rs312312

Homo sapiens
A>G
LOC105377698 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0316 (9476/29902,GnomAD)
A==0385 (11235/29118,TOPMED)
A==0286 (1432/5008,1000G)
A==0241 (929/3854,ALSPAC)
A==0240 (889/3708,TWINSUK)
chr5:162633359 (GRCh38.p7) (5q34)
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.162633359A>G
GRCh37.p13 chr 5NC_000005.9:g.162060365A>G

Gene: LOC105377698, uncharacterized LOC105377698(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105377698 transcript variant X1XR_001742958.1:n.N/AIntron Variant
LOC105377698 transcript variant X2XR_941160.2:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.575G=0.425
1000GenomesAmericanSub694A=0.340G=0.660
1000GenomesEast AsianSub1008A=0.079G=0.921
1000GenomesEuropeSub1006A=0.250G=0.750
1000GenomesGlobalStudy-wide5008A=0.286G=0.714
1000GenomesSouth AsianSub978A=0.110G=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.241G=0.759
The Genome Aggregation DatabaseAfricanSub8694A=0.537G=0.463
The Genome Aggregation DatabaseAmericanSub834A=0.300G=0.700
The Genome Aggregation DatabaseEast AsianSub1616A=0.095G=0.905
The Genome Aggregation DatabaseEuropeSub18456A=0.234G=0.765
The Genome Aggregation DatabaseGlobalStudy-wide29902A=0.316G=0.683
The Genome Aggregation DatabaseOtherSub302A=0.230G=0.770
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.385G=0.614
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.240G=0.760
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
rs3123120.00068alcohol dependence20201924

eQTL of rs312312 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 rs312312 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.