rs1413202

Homo sapiens
A>C / A>G
None
Check p-value
SNV (Single Nucleotide Variation)
C=0394 (11772/29868,GnomAD)
C=0414 (12055/29116,TOPMED)
C=0446 (2236/5008,1000G)
C=0288 (1110/3854,ALSPAC)
C=0299 (1107/3708,TWINSUK)
chr1:242708730 (GRCh38.p7) (1q43)
AD
GWASdb2
1   publication(s)
See rs on genome
67 Enhancers around
59 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.242708730A>C
GRCh38.p7 chr 1NC_000001.11:g.242708730A>G
GRCh37.p13 chr 1NC_000001.10:g.242872032A>C
GRCh37.p13 chr 1NC_000001.10:g.242872032A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.452C=0.548
1000GenomesAmericanSub694A=0.510C=0.490
1000GenomesEast AsianSub1008A=0.556C=0.444
1000GenomesEuropeSub1006A=0.687C=0.313
1000GenomesGlobalStudy-wide5008A=0.554C=0.446
1000GenomesSouth AsianSub978A=0.580C=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.712C=0.288
The Genome Aggregation DatabaseAfricanSub8680A=0.499C=0.501
The Genome Aggregation DatabaseAmericanSub838A=0.480C=0.52,
The Genome Aggregation DatabaseEast AsianSub1612A=0.586C=0.414
The Genome Aggregation DatabaseEuropeSub18436A=0.663C=0.336
The Genome Aggregation DatabaseGlobalStudy-wide29868A=0.605C=0.394
The Genome Aggregation DatabaseOtherSub302A=0.630C=0.37,
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.586C=0.414
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.701C=0.299
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
rs14132020.000462alcohol consumption (maxi-drinks)24277619

eQTL of rs1413202 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 rs1413202 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 )
chr1973985974025E067-49166
chr1974027974101E067-49090
chr1974205974384E067-48807
chr1974999975166E068-48025
chr110343101034946E06911119
chr110580491058200E06934858
chr1973985974025E070-49166
chr1974027974101E070-49090
chr1974205974384E070-48807
chr1974767974823E070-48368
chr1974999975166E070-48025
chr110028811003029E070-20162
chr110702901070359E07047099
chr1973985974025E071-49166
chr1974027974101E071-49090
chr1974205974384E071-48807
chr1974767974823E071-48368
chr1974999975166E071-48025
chr110343101034946E07111119
chr110580491058200E07134858
chr110582081058822E07135017
chr1973379973430E072-49761
chr1973489973641E072-49550
chr1973695973795E072-49396
chr1973985974025E072-49166
chr1974027974101E072-49090
chr1974205974384E072-48807
chr1974767974823E072-48368
chr1974999975166E072-48025
chr110343101034946E07211119
chr110580491058200E07234858
chr110582081058822E07235017
chr1973379973430E073-49761
chr1973489973641E073-49550
chr1973695973795E073-49396
chr1973985974025E073-49166
chr1974027974101E073-49090
chr1974205974384E073-48807
chr1974767974823E073-48368
chr1974999975166E073-48025
chr1986142986404E073-36787
chr110163701016468E073-6723
chr110526591052846E07329468
chr110343101034946E07411119
chr110434301043581E07420239
chr110526591052846E07429468
chr110580491058200E07434858
chr110582081058822E07435017
chr1973379973430E081-49761
chr1973489973641E081-49550
chr1973695973795E081-49396
chr1973985974025E081-49166
chr1974027974101E081-49090
chr1974205974384E081-48807
chr1974767974823E081-48368
chr1974999975166E081-48025
chr110028811003029E081-20162
chr110526591052846E08129468
chr110529091053225E08129718
chr110702901070359E08147099
chr110706741071648E08147483
chr1973489973641E082-49550
chr1973695973795E082-49396
chr1973985974025E082-49166
chr1974027974101E082-49090
chr1974205974384E082-48807
chr1974767974823E082-48368










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1975518975606E067-47585
chr1994015995554E067-27637
chr110038411005074E067-18117
chr110504051050863E06727214
chr110510441051109E06727853
chr110511311052445E06727940
chr1975518975606E068-47585
chr1975975976470E068-46721
chr1994015995554E068-27637
chr110504051050863E06827214
chr110510441051109E06827853
chr110511311052445E06827940
chr1975518975606E069-47585
chr1975975976470E069-46721
chr1976502976882E069-46309
chr1994015995554E069-27637
chr110038411005074E069-18117
chr110050821005282E069-17909
chr110504051050863E06927214
chr110510441051109E06927853
chr110511311052445E06927940
chr1975518975606E070-47585
chr1975975976470E070-46721
chr1976502976882E070-46309
chr110038411005074E070-18117
chr110050821005282E070-17909
chr110504051050863E07027214
chr110510441051109E07027853
chr110511311052445E07027940
chr1975518975606E071-47585
chr1994015995554E071-27637
chr110504051050863E07127214
chr110510441051109E07127853
chr110511311052445E07127940
chr1975518975606E072-47585
chr1994015995554E072-27637
chr110038411005074E072-18117
chr110504051050863E07227214
chr110510441051109E07227853
chr110511311052445E07227940
chr1975518975606E073-47585
chr1975975976470E073-46721
chr1994015995554E073-27637
chr110038411005074E073-18117
chr110050821005282E073-17909
chr110504051050863E07327214
chr110510441051109E07327853
chr110511311052445E07327940
chr1994015995554E074-27637
chr110511311052445E07427940
chr1975518975606E082-47585
chr1975975976470E082-46721
chr1976502976882E082-46309
chr1994015995554E082-27637
chr110038411005074E082-18117
chr110050821005282E082-17909
chr110504051050863E08227214
chr110510441051109E08227853
chr110511311052445E08227940