rs988199

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0153 (4605/29940,GnomAD)
A=0145 (4235/29118,TOPMED)
A=0176 (881/5008,1000G)
A=0176 (678/3854,ALSPAC)
A=0188 (696/3708,TWINSUK)
chr17:34556237 (GRCh38.p7) (17q12)
AD
GWASdb2
1   publication(s)
See rs on genome
108 Enhancers around
35 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.34556237G>A
GRCh37.p13 chr 17NC_000017.10:g.32883256G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.905A=0.095
1000GenomesAmericanSub694G=0.770A=0.230
1000GenomesEast AsianSub1008G=0.804A=0.196
1000GenomesEuropeSub1006G=0.817A=0.183
1000GenomesGlobalStudy-wide5008G=0.824A=0.176
1000GenomesSouth AsianSub978G=0.780A=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.824A=0.176
The Genome Aggregation DatabaseAfricanSub8714G=0.893A=0.107
The Genome Aggregation DatabaseAmericanSub838G=0.810A=0.190
The Genome Aggregation DatabaseEast AsianSub1614G=0.776A=0.224
The Genome Aggregation DatabaseEuropeSub18472G=0.833A=0.166
The Genome Aggregation DatabaseGlobalStudy-wide29940G=0.846A=0.153
The Genome Aggregation DatabaseOtherSub302G=0.770A=0.230
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.854A=0.145
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.812A=0.188
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
rs9881990.000706alcohol dependence24277619

eQTL of rs988199 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 rs988199 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 )
chr173292524632925408E06741990
chr173292541932925473E06742163
chr173292548632925692E06742230
chr173292577632925914E06742520
chr173292601932926102E06742763
chr173292613832926202E06742882
chr173292812732928181E06744871
chr173285982332859923E068-23333
chr173286011632860175E068-23081
chr173291488132914931E06831625
chr173291511932915235E06831863
chr173292524632925408E06841990
chr173292541932925473E06842163
chr173292548632925692E06842230
chr173292577632925914E06842520
chr173292601932926102E06842763
chr173292613832926202E06842882
chr173292524632925408E06941990
chr173292541932925473E06942163
chr173292548632925692E06942230
chr173287705032877304E070-5952
chr173288036232880423E070-2833
chr173288051932880559E070-2697
chr173288068932880774E070-2482
chr173288080832880990E070-2266
chr173288101532881203E070-2053
chr173288123332881328E070-1928
chr173288204232882138E070-1118
chr173288288632883017E070-239
chr173288313432883184E070-72
chr173288404732884239E070791
chr173289831532898365E07015059
chr173289853232898582E07015276
chr173289858632898636E07015330
chr173289879432899069E07015538
chr173290481632904895E07021560
chr173292391632924241E07040660
chr173292524632925408E07041990
chr173292541932925473E07042163
chr173292548632925692E07042230
chr173292577632925914E07042520
chr173292601932926102E07042763
chr173292613832926202E07042882
chr173292826632928958E07045010
chr173292902032929095E07045764
chr173292925832929347E07046002
chr173292937632929480E07046120
chr173292952232929582E07046266
chr173289831532898365E07115059
chr173291241932912469E07129163
chr173291888832918960E07135632
chr173292524632925408E07141990
chr173292541932925473E07142163
chr173292548632925692E07142230
chr173292577632925914E07142520
chr173292601932926102E07142763
chr173292613832926202E07142882
chr173292758132927678E07144325
chr173292786632928114E07144610
chr173292812732928181E07144871
chr173292826632928958E07145010
chr173292902032929095E07145764
chr173292925832929347E07146002
chr173289449932894587E07211243
chr173289546132895528E07212205
chr173291205332912306E07228797
chr173291241932912469E07229163
chr173291549332915543E07232237
chr173291556132915641E07232305
chr173292524632925408E07241990
chr173292541932925473E07242163
chr173292548632925692E07242230
chr173292577632925914E07242520
chr173292601932926102E07242763
chr173292613832926202E07242882
chr173289449932894587E07311243
chr173289466232894712E07311406
chr173289479532895046E07311539
chr173289559732895669E07312341
chr173289568132895799E07312425
chr173290446432904670E07321208
chr173290481632904895E07321560
chr173291205332912306E07328797
chr173291241932912469E07329163
chr173291488132914931E07331625
chr173292524632925408E07341990
chr173292541932925473E07342163
chr173292548632925692E07342230
chr173292577632925914E07342520
chr173292601932926102E07342763
chr173292613832926202E07342882
chr173289831532898365E07415059
chr173289853232898582E07415276
chr173289858632898636E07415330
chr173291549332915543E07432237
chr173292524632925408E07441990
chr173292541932925473E07442163
chr173292548632925692E07442230
chr173292577632925914E07442520
chr173292601932926102E07442763
chr173292613832926202E07442882
chr173288385232883989E081596
chr173288404732884239E081791
chr173289546132895528E08112205
chr173288385232883989E082596
chr173288404732884239E082791
chr173289853232898582E08215276
chr173289858632898636E08215330










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr173290520832906994E06721952
chr173290704232908479E06723786
chr173290852432908636E06725268
chr173290865732908874E06725401
chr173290893032909140E06725674
chr173290520832906994E06821952
chr173290704232908479E06823786
chr173290852432908636E06825268
chr173290865732908874E06825401
chr173290893032909140E06825674
chr173290520832906994E06921952
chr173290852432908636E06925268
chr173290865732908874E06925401
chr173290893032909140E06925674
chr173290520832906994E07021952
chr173290520832906994E07121952
chr173290852432908636E07125268
chr173290865732908874E07125401
chr173290893032909140E07125674
chr173290520832906994E07221952
chr173290704232908479E07223786
chr173290852432908636E07225268
chr173290865732908874E07225401
chr173290893032909140E07225674
chr173290520832906994E07321952
chr173290704232908479E07323786
chr173290852432908636E07325268
chr173290865732908874E07325401
chr173290893032909140E07325674
chr173290520832906994E07421952
chr173290704232908479E07423786
chr173290852432908636E07425268
chr173290865732908874E07425401
chr173290520832906994E08221952
chr173290852432908636E08225268