rs1852319

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0355 (10634/29950,GnomAD)
G=0427 (12459/29116,TOPMED)
G=0485 (2430/5008,1000G)
G=0139 (537/3854,ALSPAC)
G=0150 (556/3708,TWINSUK)
chr2:6112453 (GRCh38.p7) (2p25.2)
AD
GWASdb2
1   publication(s)
See rs on genome
102 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.6112453A>G
GRCh37.p13 chr 2NC_000002.11:g.6252585A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.188G=0.812
1000GenomesAmericanSub694A=0.660G=0.340
1000GenomesEast AsianSub1008A=0.368G=0.632
1000GenomesEuropeSub1006A=0.821G=0.179
1000GenomesGlobalStudy-wide5008A=0.515G=0.485
1000GenomesSouth AsianSub978A=0.690G=0.310
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.861G=0.139
The Genome Aggregation DatabaseAfricanSub8712A=0.284G=0.716
The Genome Aggregation DatabaseAmericanSub832A=0.700G=0.300
The Genome Aggregation DatabaseEast AsianSub1610A=0.375G=0.625
The Genome Aggregation DatabaseEuropeSub18494A=0.833G=0.166
The Genome Aggregation DatabaseGlobalStudy-wide29950A=0.644G=0.355
The Genome Aggregation DatabaseOtherSub302A=0.830G=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.572G=0.427
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.850G=0.150
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
rs18523190.000564alcohol consumption (maxi-drinks)24277619

eQTL of rs1852319 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 rs1852319 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 )
chr262130456213136E068-39449
chr262132386213382E068-39203
chr262147866214867E068-37718
chr262229006223167E068-29418
chr262233186223673E068-28912
chr262130456213136E069-39449
chr262132386213382E069-39203
chr262143126214399E069-38186
chr262144626214733E069-37852
chr262225526222759E069-29826
chr262229006223167E069-29418
chr262083296208419E070-44166
chr262084356208507E070-44078
chr262085626208885E070-43700
chr262090316209111E070-43474
chr262092176209353E070-43232
chr262095376209788E070-42797
chr262098156209973E070-42612
chr262101506210262E070-42323
chr262105256210608E070-41977
chr262116476212078E070-40507
chr262122356212356E070-40229
chr262123976212768E070-39817
chr262130456213136E070-39449
chr262132386213382E070-39203
chr262147866214867E070-37718
chr262150876215215E070-37370
chr262155336215590E070-36995
chr262165006216577E070-36008
chr262168386216949E070-35636
chr262171486217249E070-35336
chr262175736218043E070-34542
chr262180506218478E070-34107
chr262185606218622E070-33963
chr262186916218789E070-33796
chr262192416219381E070-33204
chr262195096219595E070-32990
chr262225526222759E070-29826
chr262229006223167E070-29418
chr262233186223673E070-28912
chr262519246252445E070-140
chr262130456213136E071-39449
chr262132386213382E071-39203
chr262144626214733E071-37852
chr262123976212768E072-39817
chr262130456213136E072-39449
chr262132386213382E072-39203
chr262144626214733E072-37852
chr262233186223673E072-28912
chr262539766254316E0721391
chr262130456213136E074-39449
chr262132386213382E074-39203
chr262144626214733E074-37852
chr262225526222759E074-29826
chr262229006223167E074-29418
chr262047486204834E081-47751
chr262049396205309E081-47276
chr262054386205530E081-47055
chr262095376209788E081-42797
chr262098156209973E081-42612
chr262101506210262E081-42323
chr262116476212078E081-40507
chr262122356212356E081-40229
chr262123976212768E081-39817
chr262130456213136E081-39449
chr262132386213382E081-39203
chr262133866214238E081-38347
chr262143126214399E081-38186
chr262144626214733E081-37852
chr262147866214867E081-37718
chr262150876215215E081-37370
chr262185606218622E081-33963
chr262186916218789E081-33796
chr262192416219381E081-33204
chr262195096219595E081-32990
chr262196856219882E081-32703
chr262225526222759E081-29826
chr262229006223167E081-29418
chr262233186223673E081-28912
chr262519246252445E081-140
chr262528076252967E081222
chr262047486204834E082-47751
chr262049396205309E082-47276
chr262083296208419E082-44166
chr262095376209788E082-42797
chr262098156209973E082-42612
chr262101506210262E082-42323
chr262105256210608E082-41977
chr262116476212078E082-40507
chr262122356212356E082-40229
chr262123976212768E082-39817
chr262147866214867E082-37718
chr262150876215215E082-37370
chr262155336215590E082-36995
chr262165006216577E082-36008
chr262192416219381E082-33204
chr262195096219595E082-32990
chr262225526222759E082-29826
chr262229006223167E082-29418
chr262233186223673E082-28912
chr262519246252445E082-140
chr262528076252967E082222








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr262211356221921E067-30664
chr262211356221921E068-30664
chr262211356221921E069-30664
chr262211356221921E070-30664
chr262211356221921E071-30664
chr262211356221921E072-30664
chr262211356221921E073-30664
chr262211356221921E074-30664
chr262211356221921E082-30664