rs9516349

Homo sapiens
C>G
LOC105370301 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0147 (4406/29934,GnomAD)
G=0185 (5389/29118,TOPMED)
G=0146 (733/5008,1000G)
G=0106 (410/3854,ALSPAC)
G=0103 (383/3708,TWINSUK)
chr13:87041835 (GRCh38.p7) (13q31.1)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.87041835C>G
GRCh37.p13 chr 13NC_000013.10:g.87694090C>G

Gene: LOC105370301, uncharacterized LOC105370301(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370301 transcript variant X1XR_931623.2:n.N/AIntron Variant
LOC105370301 transcript variant X2XR_931624.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.666G=0.334
1000GenomesAmericanSub694C=0.900G=0.100
1000GenomesEast AsianSub1008C=0.969G=0.031
1000GenomesEuropeSub1006C=0.905G=0.095
1000GenomesGlobalStudy-wide5008C=0.854G=0.146
1000GenomesSouth AsianSub978C=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.894G=0.106
The Genome Aggregation DatabaseAfricanSub8704C=0.698G=0.302
The Genome Aggregation DatabaseAmericanSub838C=0.930G=0.070
The Genome Aggregation DatabaseEast AsianSub1616C=0.954G=0.046
The Genome Aggregation DatabaseEuropeSub18474C=0.913G=0.086
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.852G=0.147
The Genome Aggregation DatabaseOtherSub302C=0.840G=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.814G=0.185
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.897G=0.103
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs95163490.000105alcohol consumption23743675

eQTL of rs9516349 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr13:87694090SLITRK5ENSG00000165300.6C>G7.2166e-3-630780Cerebellar_Hemisphere

meQTL of rs9516349 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.