rs6998032

Homo sapiens
C>T
AZIN1-AS1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0154 (4629/29952,GnomAD)
T=0131 (3839/29118,TOPMED)
T=0119 (597/5008,1000G)
T=0225 (866/3854,ALSPAC)
T=0215 (798/3708,TWINSUK)
chr8:102931186 (GRCh38.p7) (8q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
102 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.102931186C>T
GRCh37.p13 chr 8NC_000008.10:g.103943414C>T

Gene: AZIN1-AS1, AZIN1 antisense RNA 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AZIN1-AS1 transcript variant 1NR_126338.1:n.N/AIntron Variant
AZIN1-AS1 transcript variant 2NR_126339.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.992T=0.008
1000GenomesAmericanSub694C=0.650T=0.350
1000GenomesEast AsianSub1008C=0.950T=0.050
1000GenomesEuropeSub1006C=0.796T=0.204
1000GenomesGlobalStudy-wide5008C=0.881T=0.119
1000GenomesSouth AsianSub978C=0.910T=0.090
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.775T=0.225
The Genome Aggregation DatabaseAfricanSub8726C=0.960T=0.040
The Genome Aggregation DatabaseAmericanSub836C=0.710T=0.290
The Genome Aggregation DatabaseEast AsianSub1618C=0.946T=0.054
The Genome Aggregation DatabaseEuropeSub18470C=0.788T=0.211
The Genome Aggregation DatabaseGlobalStudy-wide29952C=0.845T=0.154
The Genome Aggregation DatabaseOtherSub302C=0.860T=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.868T=0.131
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.785T=0.215
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
rs69980320.000333alcohol consumption (maxi-drinks)24277619

eQTL of rs6998032 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 rs6998032 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 )
chr8103906398103906517E067-36897
chr8103906553103907418E067-35996
chr8103930885103931899E067-11515
chr8103931918103932322E067-11092
chr8103973509103974387E06730095
chr8103980592103981257E06737178
chr8103906553103907418E068-35996
chr8103909908103911932E068-31482
chr8103921965103923238E068-20176
chr8103929826103930456E068-12958
chr8103930885103931899E068-11515
chr8103931918103932322E068-11092
chr8103973509103974387E06830095
chr8103977898103977956E06834484
chr8103979709103979779E06836295
chr8103979861103979932E06836447
chr8103980368103980513E06836954
chr8103980592103981257E06837178
chr8103981368103981438E06837954
chr8103906398103906517E069-36897
chr8103907424103907901E069-35513
chr8103921965103923238E069-20176
chr8103929679103929786E069-13628
chr8103930885103931899E069-11515
chr8103931918103932322E069-11092
chr8103973509103974387E06930095
chr8103974437103974484E06931023
chr8103974572103974662E06931158
chr8103974791103974831E06931377
chr8103980368103980513E06936954
chr8103980592103981257E06937178
chr8103980592103981257E07037178
chr8103906398103906517E071-36897
chr8103906553103907418E071-35996
chr8103907424103907901E071-35513
chr8103909908103911932E071-31482
chr8103921965103923238E071-20176
chr8103925726103925927E071-17487
chr8103925942103926017E071-17397
chr8103926059103926174E071-17240
chr8103929679103929786E071-13628
chr8103929826103930456E071-12958
chr8103930885103931899E071-11515
chr8103973509103974387E07130095
chr8103974437103974484E07131023
chr8103974572103974662E07131158
chr8103980368103980513E07136954
chr8103980592103981257E07137178
chr8103981368103981438E07137954
chr8103981617103981667E07138203
chr8103981945103982028E07138531
chr8103989657103989717E07146243
chr8103906398103906517E072-36897
chr8103906553103907418E072-35996
chr8103907424103907901E072-35513
chr8103921965103923238E072-20176
chr8103925726103925927E072-17487
chr8103925942103926017E072-17397
chr8103926059103926174E072-17240
chr8103926201103926272E072-17142
chr8103929826103930456E072-12958
chr8103930885103931899E072-11515
chr8103973509103974387E07230095
chr8103980368103980513E07236954
chr8103980592103981257E07237178
chr8103906049103906256E073-37158
chr8103906317103906396E073-37018
chr8103906398103906517E073-36897
chr8103906553103907418E073-35996
chr8103909908103911932E073-31482
chr8103921965103923238E073-20176
chr8103929826103930456E073-12958
chr8103930885103931899E073-11515
chr8103931918103932322E073-11092
chr8103973509103974387E07330095
chr8103906398103906517E074-36897
chr8103906553103907418E074-35996
chr8103907424103907901E074-35513
chr8103909908103911932E074-31482
chr8103921965103923238E074-20176
chr8103930885103931899E074-11515
chr8103973509103974387E07430095
chr8103974437103974484E07431023
chr8103974572103974662E07431158
chr8103980368103980513E07436954
chr8103980592103981257E07437178
chr8103921308103921622E081-21792
chr8103921965103923238E081-20176
chr8103929826103930456E081-12958
chr8103930885103931899E081-11515
chr8103931918103932322E081-11092
chr8103932347103933579E081-9835
chr8103980592103981257E08137178
chr8103989222103989522E08145808
chr8103989657103989717E08146243
chr8103989837103989995E08146423
chr8103906553103907418E082-35996
chr8103907424103907901E082-35513
chr8103921965103923238E082-20176
chr8103931918103932322E082-11092
chr8103980592103981257E08237178
chr8103981368103981438E08237954