rs17796038

Homo sapiens
G>A / G>T
LOC105370519 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0172 (5085/29552,GnomAD)
T=0120 (601/5008,1000G)
T=0217 (838/3854,ALSPAC)
T=0218 (807/3708,TWINSUK)
chr14:57547477 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57547477G>A
GRCh38.p7 chr 14NC_000014.9:g.57547477G>T
GRCh37.p13 chr 14NC_000014.8:g.58014195G>A
GRCh37.p13 chr 14NC_000014.8:g.58014195G>T

Gene: LOC105370519, uncharacterized LOC105370519(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105370519 transcriptXR_943909.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.917T=0.083
1000GenomesAmericanSub694G=0.820T=0.180
1000GenomesEast AsianSub1008G=0.966T=0.034
1000GenomesEuropeSub1006G=0.763T=0.237
1000GenomesGlobalStudy-wide5008G=0.880T=0.120
1000GenomesSouth AsianSub978G=0.900T=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.783T=0.217
The Genome Aggregation DatabaseAfricanSub8634G=0.905T=0.095
The Genome Aggregation DatabaseAmericanSub826G=0.800T=0.20,
The Genome Aggregation DatabaseEast AsianSub1616G=0.965T=0.034
The Genome Aggregation DatabaseEuropeSub18174G=0.781T=0.218
The Genome Aggregation DatabaseGlobalStudy-wide29552G=0.827T=0.172
The Genome Aggregation DatabaseOtherSub302G=0.760T=0.24,
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.782T=0.218
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
rs177960380.000309alcohol consumption (maxi-drinks)24277619

eQTL of rs17796038 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 rs17796038 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 )
chr145802516958025310E070-17443
chr145802612058026185E070-16568
chr145803208258032132E070-10621
chr145803217358032442E070-10311
chr145803217358032442E081-10311
chr145803277158032821E081-9932
chr145803208258032132E082-10621
chr145803217358032442E082-10311
chr145803277158032821E082-9932