rs17795775

Homo sapiens
C>T
LOC105370519 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0163 (4904/29936,GnomAD)
T=0150 (4369/29118,TOPMED)
T=0100 (500/5008,1000G)
T=0204 (786/3854,ALSPAC)
T=0207 (768/3708,TWINSUK)
chr14:57532149 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57532149C>T
GRCh37.p13 chr 14NC_000014.8:g.57998867C>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
1000GenomesAfricanSub1322C=0.939T=0.061
1000GenomesAmericanSub694C=0.840T=0.160
1000GenomesEast AsianSub1008C=0.972T=0.028
1000GenomesEuropeSub1006C=0.791T=0.209
1000GenomesGlobalStudy-wide5008C=0.900T=0.100
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.796T=0.204
The Genome Aggregation DatabaseAfricanSub8716C=0.921T=0.079
The Genome Aggregation DatabaseAmericanSub836C=0.820T=0.180
The Genome Aggregation DatabaseEast AsianSub1616C=0.971T=0.029
The Genome Aggregation DatabaseEuropeSub18466C=0.786T=0.213
The Genome Aggregation DatabaseGlobalStudy-wide29936C=0.836T=0.163
The Genome Aggregation DatabaseOtherSub302C=0.770T=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.850T=0.150
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.793T=0.207
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
rs177957750.000647alcohol consumption (maxi-drinks)24277619

eQTL of rs17795775 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 rs17795775 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 )
chr145795844357958722E068-40145
chr145795358157953827E070-45040
chr145795461257954781E070-44086
chr145802516958025310E07026302
chr145802612058026185E07027253
chr145803208258032132E07033215
chr145803217358032442E07033306
chr145795844357958722E074-40145
chr145803217358032442E08133306
chr145803277158032821E08133904
chr145803208258032132E08233215
chr145803217358032442E08233306
chr145803277158032821E08233904