rs17614422

Homo sapiens
C>A
LOC105370301 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0066 (2002/29964,GnomAD)
A=0068 (2003/29118,TOPMED)
A=0057 (286/5008,1000G)
A=0104 (402/3854,ALSPAC)
A=0103 (381/3708,TWINSUK)
chr13:87042816 (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.87042816C>A
GRCh37.p13 chr 13NC_000013.10:g.87695071C>A

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=0.982A=0.018
1000GenomesAmericanSub694C=0.940A=0.060
1000GenomesEast AsianSub1008C=0.968A=0.032
1000GenomesEuropeSub1006C=0.908A=0.092
1000GenomesGlobalStudy-wide5008C=0.943A=0.057
1000GenomesSouth AsianSub978C=0.900A=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.896A=0.104
The Genome Aggregation DatabaseAfricanSub8714C=0.971A=0.029
The Genome Aggregation DatabaseAmericanSub838C=0.950A=0.050
The Genome Aggregation DatabaseEast AsianSub1618C=0.954A=0.046
The Genome Aggregation DatabaseEuropeSub18494C=0.914A=0.085
The Genome Aggregation DatabaseGlobalStudy-wide29964C=0.933A=0.066
The Genome Aggregation DatabaseOtherSub300C=0.850A=0.150
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.931A=0.068
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.897A=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
rs176144229.77E-05alcohol consumption23743675

eQTL of rs17614422 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr13:87695071SLITRK5ENSG00000165300.6C>A7.2166e-3-629799Cerebellar_Hemisphere

meQTL of rs17614422 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.