rs17315616

Homo sapiens
T>C
LOC283299 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0095 (2865/29966,GnomAD)
C=0104 (3036/29118,TOPMED)
C=0126 (633/5008,1000G)
C=0080 (310/3854,ALSPAC)
C=0079 (292/3708,TWINSUK)
chr11:7892393 (GRCh38.p7) (11p15.4)
AD
GWASdb2
1   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.7892393T>C
GRCh37.p13 chr 11NC_000011.9:g.7913940T>C
GRCh38.p7 chr 11 novel patch HSCHR11_1_CTG1_2NW_011332695.1:g.123387T>C
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG5NT_187583.1:g.123894T>C

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
1000GenomesAfricanSub1322T=0.887C=0.113
1000GenomesAmericanSub694T=0.830C=0.170
1000GenomesEast AsianSub1008T=0.837C=0.163
1000GenomesEuropeSub1006T=0.919C=0.081
1000GenomesGlobalStudy-wide5008T=0.874C=0.126
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.920C=0.080
The Genome Aggregation DatabaseAfricanSub8714T=0.900C=0.100
The Genome Aggregation DatabaseAmericanSub838T=0.840C=0.160
The Genome Aggregation DatabaseEast AsianSub1622T=0.826C=0.174
The Genome Aggregation DatabaseEuropeSub18490T=0.916C=0.084
The Genome Aggregation DatabaseGlobalStudy-wide29966T=0.904C=0.095
The Genome Aggregation DatabaseOtherSub302T=0.930C=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.895C=0.104
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.921C=0.079
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs173156165.34E-05alcohol consumption23953852

eQTL of rs17315616 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 rs17315616 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)
chr1179492487949467E07435308
chr1179494767949625E07435536