rs17237639

Homo sapiens
A>G / A>T
LOC105374658 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0288 (8604/29838,GnomAD)
G=0287 (8360/29118,TOPMED)
G=0274 (1374/5008,1000G)
G=0388 (1496/3854,ALSPAC)
G=0377 (1398/3708,TWINSUK)
chr5:12975822 (GRCh38.p7) (5p15.2)
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.12975822A>G
GRCh38.p7 chr 5NC_000005.10:g.12975822A>T
GRCh37.p13 chr 5NC_000005.9:g.12975934A>G
GRCh37.p13 chr 5NC_000005.9:g.12975934A>T

Gene: LOC105374658, uncharacterized LOC105374658(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105374658 transcript variant X3XR_001742602.1:n.N/AIntron Variant
LOC105374658 transcript variant X1XR_925796.2:n.N/AIntron Variant
LOC105374658 transcript variant X2XR_925797.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.880G=0.120
1000GenomesAmericanSub694A=0.590G=0.410
1000GenomesEast AsianSub1008A=0.757G=0.243
1000GenomesEuropeSub1006A=0.652G=0.348
1000GenomesGlobalStudy-wide5008A=0.726G=0.274
1000GenomesSouth AsianSub978A=0.660G=0.340
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.612G=0.388
The Genome Aggregation DatabaseAfricanSub8704A=0.845G=0.155
The Genome Aggregation DatabaseAmericanSub838A=0.600G=0.40,
The Genome Aggregation DatabaseEast AsianSub1606A=0.758G=0.242
The Genome Aggregation DatabaseEuropeSub18388A=0.651G=0.349
The Genome Aggregation DatabaseGlobalStudy-wide29838A=0.711G=0.288
The Genome Aggregation DatabaseOtherSub302A=0.620G=0.38,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.712G=0.287
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.623G=0.377
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
rs172376390.00031alcohol dependence20201924

eQTL of rs17237639 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 rs17237639 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.