rs923572

Homo sapiens
G>A
LOC105377161 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0141 (4242/29966,GnomAD)
G==0184 (5381/29118,TOPMED)
G==0191 (956/5008,1000G)
G==0077 (298/3854,ALSPAC)
G==0072 (268/3708,TWINSUK)
chr3:72647860 (GRCh38.p7) (3p13)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.72647860G>A
GRCh37.p13 chr 3NC_000003.11:g.72697011G>A
GRCh38.p7 chr 3 fix patch HG126_PATCHNW_011332691.1:g.322769G>A

Gene: LOC105377161, uncharacterized LOC105377161(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105377161 transcriptXR_940962.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.325A=0.675
1000GenomesAmericanSub694G=0.120A=0.880
1000GenomesEast AsianSub1008G=0.250A=0.750
1000GenomesEuropeSub1006G=0.087A=0.913
1000GenomesGlobalStudy-wide5008G=0.191A=0.809
1000GenomesSouth AsianSub978G=0.110A=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.077A=0.923
The Genome Aggregation DatabaseAfricanSub8714G=0.280A=0.720
The Genome Aggregation DatabaseAmericanSub838G=0.100A=0.900
The Genome Aggregation DatabaseEast AsianSub1616G=0.225A=0.775
The Genome Aggregation DatabaseEuropeSub18496G=0.070A=0.929
The Genome Aggregation DatabaseGlobalStudy-wide29966G=0.141A=0.858
The Genome Aggregation DatabaseOtherSub302G=0.180A=0.820
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.184A=0.815
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.072A=0.928
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
rs9235728.5E-05alcohol consumption (maxi-drinks)24277619

eQTL of rs923572 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 rs923572 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 )
chr37265363072653911E067-43100
chr37270494872705037E0677937
chr37270508072705197E0678069
chr37270670272707247E0679691
chr37271257972712919E06715568
chr37271388472714048E06716873
chr37272893872729353E06731927
chr37272946672729553E06732455
chr37273221772732331E06735206
chr37265303472653199E068-43812
chr37265349772653579E068-43432
chr37265363072653911E068-43100
chr37270494872705037E0687937
chr37270508072705197E0688069
chr37270670272707247E0689691
chr37271002172710635E06813010
chr37271066872710718E06813657
chr37271257972712919E06815568
chr37271388472714048E06816873
chr37272893872729353E06831927
chr37265010572650229E069-46782
chr37265032772650569E069-46442
chr37265303472653199E069-43812
chr37265349772653579E069-43432
chr37265363072653911E069-43100
chr37265548872655855E069-41156
chr37266688372667081E069-29930
chr37270494872705037E0697937
chr37270508072705197E0698069
chr37270670272707247E0699691
chr37271002172710635E06913010
chr37271066872710718E06913657
chr37271257972712919E06915568
chr37271388472714048E06916873
chr37272893872729353E06931927
chr37272946672729553E06932455
chr37265010572650229E070-46782
chr37265032772650569E070-46442
chr37270494872705037E0707937
chr37270508072705197E0708069
chr37265010572650229E071-46782
chr37265032772650569E071-46442
chr37265548872655855E071-41156
chr37270494872705037E0717937
chr37270508072705197E0718069
chr37270670272707247E0719691
chr37271002172710635E07113010
chr37271066872710718E07113657
chr37271257972712919E07115568
chr37271388472714048E07116873
chr37272810572728302E07131094
chr37272840872728550E07131397
chr37272893872729353E07131927
chr37272946672729553E07132455
chr37265010572650229E072-46782
chr37265032772650569E072-46442
chr37265303472653199E072-43812
chr37265548872655855E072-41156
chr37270494872705037E0727937
chr37270957772709708E07212566
chr37271002172710635E07213010
chr37271066872710718E07213657
chr37271388472714048E07216873
chr37272781372728045E07230802
chr37272810572728302E07231094
chr37272840872728550E07231397
chr37272893872729353E07231927
chr37272946672729553E07232455
chr37272840872728550E07331397
chr37272893872729353E07331927
chr37272946672729553E07332455
chr37265010572650229E074-46782
chr37265032772650569E074-46442
chr37265548872655855E074-41156
chr37266652872666825E074-30186
chr37270494872705037E0747937
chr37270508072705197E0748069
chr37270670272707247E0749691
chr37271002172710635E07413010
chr37271066872710718E07413657
chr37271257972712919E07415568
chr37271388472714048E07416873
chr37271486572715229E07417854
chr37272781372728045E07430802
chr37272810572728302E07431094
chr37272840872728550E07431397
chr37272893872729353E07431927
chr37272946672729553E07432455
chr37265010572650229E081-46782
chr37265032772650569E081-46442
chr37265363072653911E081-43100
chr37268776772687830E081-9181
chr37270494872705037E0817937
chr37270508072705197E0818069
chr37271486572715229E08117854
chr37270886872709152E08211857
chr37272946672729553E08232455