rs17148568

Homo sapiens
A>C
LOC105379149 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0146 (4396/29938,GnomAD)
C=0166 (4855/29118,TOPMED)
C=0175 (876/5008,1000G)
C=0098 (376/3854,ALSPAC)
C=0089 (330/3708,TWINSUK)
chr5:121854755 (GRCh38.p7) (5q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.121854755A>C
GRCh37.p13 chr 5NC_000005.9:g.121190450A>C

Gene: LOC105379149, uncharacterized LOC105379149(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105379149 transcript variant X2XR_001742862.1:n.N/AIntron Variant
LOC105379149 transcript variant X1XR_948712.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.727C=0.273
1000GenomesAmericanSub694A=0.860C=0.140
1000GenomesEast AsianSub1008A=0.836C=0.164
1000GenomesEuropeSub1006A=0.893C=0.107
1000GenomesGlobalStudy-wide5008A=0.825C=0.175
1000GenomesSouth AsianSub978A=0.850C=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.902C=0.098
The Genome Aggregation DatabaseAfricanSub8704A=0.760C=0.240
The Genome Aggregation DatabaseAmericanSub834A=0.870C=0.130
The Genome Aggregation DatabaseEast AsianSub1622A=0.850C=0.150
The Genome Aggregation DatabaseEuropeSub18476A=0.897C=0.102
The Genome Aggregation DatabaseGlobalStudy-wide29938A=0.853C=0.146
The Genome Aggregation DatabaseOtherSub302A=0.790C=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.833C=0.166
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.911C=0.089
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs171485680.000374alcohol dependence21314694

eQTL of rs17148568 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 rs17148568 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.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr5121218906121219171E07028456
chr5121235197121235441E07044747
chr5121235197121235441E07144747
chr5121169248121170262E074-20188