rs16954588

Homo sapiens
C>T
LOC107985165 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0099 (2989/29964,GnomAD)
T=0119 (3464/29118,TOPMED)
T=0141 (706/5008,1000G)
T=0072 (279/3854,ALSPAC)
T=0068 (252/3708,TWINSUK)
chr18:1014559 (GRCh38.p7) (18p11.32)
AD
GWASdb2
1   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.1014559C>T
GRCh37.p13 chr 18NC_000018.9:g.1014560C>T

Gene: LOC107985165, uncharacterized LOC107985165(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC107985165 transcriptXR_001753317.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.838T=0.162
1000GenomesAmericanSub694C=0.910T=0.090
1000GenomesEast AsianSub1008C=0.827T=0.173
1000GenomesEuropeSub1006C=0.925T=0.075
1000GenomesGlobalStudy-wide5008C=0.859T=0.141
1000GenomesSouth AsianSub978C=0.810T=0.190
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.928T=0.072
The Genome Aggregation DatabaseAfricanSub8716C=0.840T=0.160
The Genome Aggregation DatabaseAmericanSub838C=0.920T=0.080
The Genome Aggregation DatabaseEast AsianSub1618C=0.849T=0.151
The Genome Aggregation DatabaseEuropeSub18490C=0.934T=0.066
The Genome Aggregation DatabaseGlobalStudy-wide29964C=0.900T=0.099
The Genome Aggregation DatabaseOtherSub302C=0.800T=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.881T=0.119
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.932T=0.068
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs169545880.000858alcohol dependence24277619

eQTL of rs16954588 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 rs16954588 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 )
chr18967096967243E081-47317
chr18984522984608E081-29952
chr18985114986050E081-28510
chr18984212984367E082-30193
chr18984522984608E082-29952
chr18985114986050E082-28510
chr18986113986419E082-28141
chr1810173311017471E0822771
chr1810176581018126E0823098
chr1810181381019702E0823578