rs17387182

Homo sapiens
C>T
LOC105374461 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0284 (8499/29872,GnomAD)
T=0283 (8245/29116,TOPMED)
T=0237 (1189/5008,1000G)
T=0270 (1040/3854,ALSPAC)
T=0270 (1000/3708,TWINSUK)
chr2:34999384 (GRCh38.p7) (2p22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.34999384C>T
GRCh37.p13 chr 2NC_000002.11:g.35224451C>T

Gene: LOC105374461, uncharacterized LOC105374461(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105374461 transcriptXR_001739187.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.658T=0.342
1000GenomesAmericanSub694C=0.830T=0.170
1000GenomesEast AsianSub1008C=0.881T=0.119
1000GenomesEuropeSub1006C=0.714T=0.286
1000GenomesGlobalStudy-wide5008C=0.763T=0.237
1000GenomesSouth AsianSub978C=0.780T=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.730T=0.270
The Genome Aggregation DatabaseAfricanSub8698C=0.666T=0.334
The Genome Aggregation DatabaseAmericanSub836C=0.850T=0.150
The Genome Aggregation DatabaseEast AsianSub1608C=0.900T=0.100
The Genome Aggregation DatabaseEuropeSub18430C=0.715T=0.284
The Genome Aggregation DatabaseGlobalStudy-wide29872C=0.715T=0.284
The Genome Aggregation DatabaseOtherSub300C=0.750T=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.716T=0.283
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.730T=0.270
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
rs173871820.000775alcohol dependence20201924

eQTL of rs17387182 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 rs17387182 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 )
chr23522372435224142E074-309
chr23521958535219639E082-4812