rs990510

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
C==0414 (12398/29914,GnomAD)
C==0403 (11756/29118,TOPMED)
C==0463 (2319/5008,1000G)
C==0416 (1603/3854,ALSPAC)
C==0403 (1493/3708,TWINSUK)
chr17:34542932 (GRCh38.p7) (17q12)
AD
GWASdb2
1   publication(s)
See rs on genome
51 Enhancers around
35 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.34542932C>A
GRCh37.p13 chr 17NC_000017.10:g.32869951C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.430A=0.570
1000GenomesAmericanSub694C=0.400A=0.600
1000GenomesEast AsianSub1008C=0.481A=0.519
1000GenomesEuropeSub1006C=0.431A=0.569
1000GenomesGlobalStudy-wide5008C=0.463A=0.537
1000GenomesSouth AsianSub978C=0.570A=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.416A=0.584
The Genome Aggregation DatabaseAfricanSub8688C=0.413A=0.587
The Genome Aggregation DatabaseAmericanSub838C=0.440A=0.560
The Genome Aggregation DatabaseEast AsianSub1606C=0.487A=0.513
The Genome Aggregation DatabaseEuropeSub18480C=0.407A=0.592
The Genome Aggregation DatabaseGlobalStudy-wide29914C=0.414A=0.585
The Genome Aggregation DatabaseOtherSub302C=0.440A=0.560
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.403A=0.596
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.403A=0.597
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
rs9905100.000284alcohol dependence24277619

eQTL of rs990510 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 rs990510 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 )
chr173283055832830608E068-39343
chr173285982332859923E068-10028
chr173286011632860175E068-9776
chr173291488132914931E06844930
chr173291511932915235E06845168
chr173287705032877304E0707099
chr173288036232880423E07010411
chr173288051932880559E07010568
chr173288068932880774E07010738
chr173288080832880990E07010857
chr173288101532881203E07011064
chr173288123332881328E07011282
chr173288204232882138E07012091
chr173288288632883017E07012935
chr173288313432883184E07013183
chr173288404732884239E07014096
chr173289831532898365E07028364
chr173289853232898582E07028581
chr173289858632898636E07028635
chr173289879432899069E07028843
chr173290481632904895E07034865
chr173289831532898365E07128364
chr173291241932912469E07142468
chr173291888832918960E07148937
chr173289449932894587E07224548
chr173289546132895528E07225510
chr173291205332912306E07242102
chr173291241932912469E07242468
chr173291549332915543E07245542
chr173291556132915641E07245610
chr173289449932894587E07324548
chr173289466232894712E07324711
chr173289479532895046E07324844
chr173289559732895669E07325646
chr173289568132895799E07325730
chr173290446432904670E07334513
chr173290481632904895E07334865
chr173291205332912306E07342102
chr173291241932912469E07342468
chr173291488132914931E07344930
chr173289831532898365E07428364
chr173289853232898582E07428581
chr173289858632898636E07428635
chr173291549332915543E07445542
chr173288385232883989E08113901
chr173288404732884239E08114096
chr173289546132895528E08125510
chr173288385232883989E08213901
chr173288404732884239E08214096
chr173289853232898582E08228581
chr173289858632898636E08228635








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr173290520832906994E06735257
chr173290704232908479E06737091
chr173290852432908636E06738573
chr173290865732908874E06738706
chr173290893032909140E06738979
chr173290520832906994E06835257
chr173290704232908479E06837091
chr173290852432908636E06838573
chr173290865732908874E06838706
chr173290893032909140E06838979
chr173290520832906994E06935257
chr173290852432908636E06938573
chr173290865732908874E06938706
chr173290893032909140E06938979
chr173290520832906994E07035257
chr173290520832906994E07135257
chr173290852432908636E07138573
chr173290865732908874E07138706
chr173290893032909140E07138979
chr173290520832906994E07235257
chr173290704232908479E07237091
chr173290852432908636E07238573
chr173290865732908874E07238706
chr173290893032909140E07238979
chr173290520832906994E07335257
chr173290704232908479E07337091
chr173290852432908636E07338573
chr173290865732908874E07338706
chr173290893032909140E07338979
chr173290520832906994E07435257
chr173290704232908479E07437091
chr173290852432908636E07438573
chr173290865732908874E07438706
chr173290520832906994E08235257
chr173290852432908636E08238573