rs17315588

Homo sapiens
C>A
LOC283299 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0067 (2036/29968,GnomAD)
A=0054 (1593/29118,TOPMED)
A=0081 (404/5008,1000G)
A=0078 (299/3854,ALSPAC)
A=0076 (283/3708,TWINSUK)
chr11:7892364 (GRCh38.p7) (11p15.4)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.7892364C>A
GRCh37.p13 chr 11NC_000011.9:g.7913911C>A
GRCh38.p7 chr 11 novel patch HSCHR11_1_CTG1_2NW_011332695.1:g.123358C>A
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG5NT_187583.1:g.123865C>A

Gene: LOC283299, uncharacterized LOC283299(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC283299 transcriptNR_036678.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.993A=0.007
1000GenomesAmericanSub694C=0.840A=0.160
1000GenomesEast AsianSub1008C=0.857A=0.143
1000GenomesEuropeSub1006C=0.919A=0.081
1000GenomesGlobalStudy-wide5008C=0.919A=0.081
1000GenomesSouth AsianSub978C=0.940A=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.922A=0.078
The Genome Aggregation DatabaseAfricanSub8720C=0.984A=0.016
The Genome Aggregation DatabaseAmericanSub836C=0.840A=0.160
The Genome Aggregation DatabaseEast AsianSub1616C=0.855A=0.145
The Genome Aggregation DatabaseEuropeSub18494C=0.918A=0.081
The Genome Aggregation DatabaseGlobalStudy-wide29968C=0.932A=0.067
The Genome Aggregation DatabaseOtherSub302C=0.940A=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.945A=0.054
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.924A=0.076
PMID Title Author Journal
24573330Genome metabolome integrated network analysis to uncover connections between genetic variants and complex traits: an application to obesity.Valcarcel BJ R Soc Interface
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs173155884.47E-05alcohol consumption23953852

eQTL of rs17315588 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 rs17315588 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.

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1179492487949467E07435337
chr1179494767949625E07435565