rs16968523

Homo sapiens
C>T
LOC105372347 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0305 (9121/29828,GnomAD)
T=0325 (9478/29118,TOPMED)
T=0330 (1655/5008,1000G)
T=0248 (956/3854,ALSPAC)
T=0249 (924/3708,TWINSUK)
chr19:27893795 (GRCh38.p7) (19q11)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.27893795C>T
GRCh37.p13 chr 19NC_000019.9:g.28384703C>T

Gene: LOC105372347, uncharacterized LOC105372347(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105372347 transcriptXR_001753886.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.548T=0.452
1000GenomesAmericanSub694C=0.730T=0.270
1000GenomesEast AsianSub1008C=0.614T=0.386
1000GenomesEuropeSub1006C=0.727T=0.273
1000GenomesGlobalStudy-wide5008C=0.670T=0.330
1000GenomesSouth AsianSub978C=0.790T=0.210
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.752T=0.248
The Genome Aggregation DatabaseAfricanSub8646C=0.604T=0.396
The Genome Aggregation DatabaseAmericanSub834C=0.710T=0.290
The Genome Aggregation DatabaseEast AsianSub1618C=0.634T=0.366
The Genome Aggregation DatabaseEuropeSub18428C=0.740T=0.259
The Genome Aggregation DatabaseGlobalStudy-wide29828C=0.694T=0.305
The Genome Aggregation DatabaseOtherSub302C=0.740T=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.674T=0.325
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.751T=0.249
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
rs169685230.000579alcohol consumption (maxi-drinks)24277619

eQTL of rs16968523 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 rs16968523 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 )
chr192839590628395983E06711203
chr192839623828396327E06711535
chr192839660028397548E06711897
chr192839590628395983E06811203
chr192839623828396327E06811535
chr192839660028397548E06811897
chr192839660028397548E06911897
chr192839590628395983E07111203
chr192839623828396327E07111535
chr192839660028397548E07111897
chr192839623828396327E07211535
chr192839660028397548E07211897
chr192839623828396327E07311535
chr192839623828396327E07411535
chr192839660028397548E07411897