rs12418699

Homo sapiens
T>C
LOC105376596 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0217 (6521/29924,GnomAD)
C=0161 (4706/29118,TOPMED)
C=0271 (1355/5008,1000G)
C=0270 (1041/3854,ALSPAC)
C=0269 (996/3708,TWINSUK)
chr11:25825342 (GRCh38.p7) (11p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.25825342T>C
GRCh37.p13 chr 11NC_000011.9:g.25846889T>C

Gene: LOC105376596, uncharacterized LOC105376596(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105376596 transcript variant X4XR_931136.2:n.N/AIntron Variant
LOC105376596 transcript variant X1XR_931132.2:n.N/AGenic Downstream Transcript Variant
LOC105376596 transcript variant X2XR_931133.2:n.N/AGenic Downstream Transcript Variant
LOC105376596 transcript variant X3XR_931134.1:n.N/AGenic Downstream Transcript Variant
LOC105376596 transcript variant X5XR_931135.2:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.975C=0.025
1000GenomesAmericanSub694T=0.790C=0.210
1000GenomesEast AsianSub1008T=0.504C=0.496
1000GenomesEuropeSub1006T=0.732C=0.268
1000GenomesGlobalStudy-wide5008T=0.729C=0.271
1000GenomesSouth AsianSub978T=0.590C=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.730C=0.270
The Genome Aggregation DatabaseAfricanSub8720T=0.943C=0.057
The Genome Aggregation DatabaseAmericanSub836T=0.770C=0.230
The Genome Aggregation DatabaseEast AsianSub1606T=0.484C=0.516
The Genome Aggregation DatabaseEuropeSub18460T=0.731C=0.268
The Genome Aggregation DatabaseGlobalStudy-wide29924T=0.782C=0.217
The Genome Aggregation DatabaseOtherSub302T=0.820C=0.180
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.838C=0.161
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.731C=0.269
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
rs124186990.000825alcohol dependence24277619

eQTL of rs12418699 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 rs12418699 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 )
chr112588235825883131E06935469
chr112588316225883285E06936273
chr112586612125866171E07019232
chr112586652225866622E07019633
chr112588235825883131E07035469
chr112588316225883285E07036273
chr112588235825883131E07135469
chr112588235825883131E08135469
chr112588316225883285E08136273
chr112588235825883131E08235469
chr112588316225883285E08236273