rs2918406

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0315 (9438/29920,GnomAD)
C=0327 (9543/29118,TOPMED)
C=0291 (1458/5008,1000G)
C=0285 (1100/3854,ALSPAC)
C=0271 (1006/3708,TWINSUK)
chr5:10829507 (GRCh38.p7) (5p15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
31 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.10829507A>C
GRCh37.p13 chr 5NC_000005.9:g.10829619A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.584C=0.416
1000GenomesAmericanSub694A=0.770C=0.230
1000GenomesEast AsianSub1008A=0.855C=0.145
1000GenomesEuropeSub1006A=0.681C=0.319
1000GenomesGlobalStudy-wide5008A=0.709C=0.291
1000GenomesSouth AsianSub978A=0.710C=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.715C=0.285
The Genome Aggregation DatabaseAfricanSub8702A=0.607C=0.393
The Genome Aggregation DatabaseAmericanSub836A=0.760C=0.240
The Genome Aggregation DatabaseEast AsianSub1620A=0.891C=0.109
The Genome Aggregation DatabaseEuropeSub18460A=0.699C=0.300
The Genome Aggregation DatabaseGlobalStudy-wide29920A=0.684C=0.315
The Genome Aggregation DatabaseOtherSub302A=0.700C=0.300
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.672C=0.327
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.729C=0.271
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
rs29184063.42E-06alcohol consumption (maxi-drinks)24277619

eQTL of rs2918406 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 rs2918406 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 )
chr51085655910856641E06726940
chr51085793610858018E06728317
chr51078862110788704E068-40915
chr51078894110789641E068-39978
chr51085655910856641E06826940
chr51078862110788704E069-40915
chr51078894110789641E069-39978
chr51085655910856641E06926940
chr51085793610858018E06928317
chr51085675010857883E07027131
chr51078862110788704E071-40915
chr51085471210854914E07125093
chr51085502310855269E07125404
chr51078862110788704E072-40915
chr51078894110789641E072-39978
chr51085655910856641E07226940
chr51085655910856641E07326940
chr51085793610858018E07328317
chr51078894110789641E074-39978
chr51085655910856641E07426940
chr51085675010857883E07427131
chr51085655910856641E08126940
chr51085675010857883E08127131
chr51085793610858018E08128317
chr51085846610858516E08128847
chr51085858410858654E08128965
chr51087047510870629E08140856
chr51087081510871339E08141196
chr51085675010857883E08227131
chr51085793610858018E08228317
chr51087047510870629E08240856