rs11692798

Homo sapiens
C>T
LOC105373667 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0313 (9378/29928,GnomAD)
T=0280 (8156/29118,TOPMED)
T=0312 (1564/5008,1000G)
T=0393 (1515/3854,ALSPAC)
T=0402 (1489/3708,TWINSUK)
chr2:146240072 (GRCh38.p7) (2q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.146240072C>T
GRCh37.p13 chr 2NC_000002.11:g.146997640C>T

Gene: LOC105373667, uncharacterized LOC105373667(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105373667 transcript variant X2XR_923422.2:n.N/AIntron Variant
LOC105373667 transcript variant X1XR_923421.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.967T=0.033
1000GenomesAmericanSub694C=0.620T=0.380
1000GenomesEast AsianSub1008C=0.414T=0.586
1000GenomesEuropeSub1006C=0.610T=0.390
1000GenomesGlobalStudy-wide5008C=0.688T=0.312
1000GenomesSouth AsianSub978C=0.720T=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.607T=0.393
The Genome Aggregation DatabaseAfricanSub8718C=0.910T=0.090
The Genome Aggregation DatabaseAmericanSub832C=0.570T=0.430
The Genome Aggregation DatabaseEast AsianSub1606C=0.374T=0.626
The Genome Aggregation DatabaseEuropeSub18470C=0.615T=0.384
The Genome Aggregation DatabaseGlobalStudy-wide29928C=0.686T=0.313
The Genome Aggregation DatabaseOtherSub302C=0.570T=0.430
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.719T=0.280
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.598T=0.402
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
rs116927980.000508alcohol dependence24277619

eQTL of rs11692798 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 rs11692798 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 )
chr2147002561147002685E0704921