rs17614444

Homo sapiens
T>C
LOC105370301 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0064 (1941/29982,GnomAD)
C=0065 (1912/29118,TOPMED)
C=0056 (278/5008,1000G)
C=0104 (402/3854,ALSPAC)
C=0103 (381/3708,TWINSUK)
chr13:87050963 (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.87050963T>C
GRCh37.p13 chr 13NC_000013.10:g.87703218T>C

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
1000GenomesAfricanSub1322T=0.986C=0.014
1000GenomesAmericanSub694T=0.940C=0.060
1000GenomesEast AsianSub1008T=0.970C=0.030
1000GenomesEuropeSub1006T=0.908C=0.092
1000GenomesGlobalStudy-wide5008T=0.944C=0.056
1000GenomesSouth AsianSub978T=0.900C=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.896C=0.104
The Genome Aggregation DatabaseAfricanSub8728T=0.978C=0.022
The Genome Aggregation DatabaseAmericanSub834T=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1622T=0.951C=0.049
The Genome Aggregation DatabaseEuropeSub18496T=0.914C=0.085
The Genome Aggregation DatabaseGlobalStudy-wide29982T=0.935C=0.064
The Genome Aggregation DatabaseOtherSub302T=0.850C=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.934C=0.065
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.897C=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
rs176144440.000114alcohol consumption23743675

eQTL of rs17614444 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr13:87703218SLITRK5ENSG00000165300.6T>C7.2166e-3-621652Cerebellar_Hemisphere

meQTL of rs17614444 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.