rs7590496

Homo sapiens
C>A
LOC105373602 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0024 (722/29988,GnomAD)
A=0035 (1028/29118,TOPMED)
A=0024 (119/5008,1000G)
A=0000 (0/3854,ALSPAC)
A=0000 (1/3708,TWINSUK)
chr2:126600111 (GRCh38.p7) (2q14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.126600111C>A
GRCh37.p13 chr 2NC_000002.11:g.127357688C>A

Gene: LOC105373602, uncharacterized LOC105373602(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373602 transcript variant X2XR_001739694.1:n....XR_001739694.1:n.299G>TG>TNon Coding Transcript Variant
LOC105373602 transcript variant X1XR_001739693.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.911A=0.089
1000GenomesAmericanSub694C=1.000A=0.000
1000GenomesEast AsianSub1008C=1.000A=0.000
1000GenomesEuropeSub1006C=0.999A=0.001
1000GenomesGlobalStudy-wide5008C=0.976A=0.024
1000GenomesSouth AsianSub978C=1.000A=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8734C=0.918A=0.082
The Genome Aggregation DatabaseAmericanSub838C=1.000A=0.000
The Genome Aggregation DatabaseEast AsianSub1606C=1.000A=0.000
The Genome Aggregation DatabaseEuropeSub18508C=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29988C=0.975A=0.024
The Genome Aggregation DatabaseOtherSub302C=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.964A=0.035
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=1.000A=0.000
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
rs75904960.000393alcohol dependence20201924

eQTL of rs7590496 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 rs7590496 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 )
chr2127332686127333495E081-24193