rs7245323

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0209 (6271/29972,GnomAD)
C=0211 (6171/29118,TOPMED)
C=0273 (1366/5008,1000G)
C=0154 (592/3854,ALSPAC)
C=0151 (560/3708,TWINSUK)
chr18:41385560 (GRCh38.p7) (18q12.3)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.41385560T>C
GRCh37.p13 chr 18NC_000018.9:g.38965524T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.683C=0.317
1000GenomesAmericanSub694T=0.720C=0.280
1000GenomesEast AsianSub1008T=0.643C=0.357
1000GenomesEuropeSub1006T=0.844C=0.156
1000GenomesGlobalStudy-wide5008T=0.727C=0.273
1000GenomesSouth AsianSub978T=0.760C=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.846C=0.154
The Genome Aggregation DatabaseAfricanSub8730T=0.701C=0.299
The Genome Aggregation DatabaseAmericanSub838T=0.670C=0.330
The Genome Aggregation DatabaseEast AsianSub1620T=0.618C=0.382
The Genome Aggregation DatabaseEuropeSub18482T=0.852C=0.147
The Genome Aggregation DatabaseGlobalStudy-wide29972T=0.790C=0.209
The Genome Aggregation DatabaseOtherSub302T=0.860C=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.788C=0.211
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.849C=0.151
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
rs72453230.000833alcohol dependence24277619

eQTL of rs7245323 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 rs7245323 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 )
chr183895144338951631E068-13893
chr183895064238951394E070-14130
chr183897071138971176E0705187
chr183892108638921163E081-44361
chr183892126138921335E081-44189
chr183895064238951394E081-14130
chr183895144338951631E081-13893
chr183895165938951819E081-13705
chr183896971238969762E0814188
chr183897071138971176E0815187
chr183897122138971447E0815697
chr183897151838972549E0815994
chr183901409239014158E08148568
chr183901430539014405E08148781
chr183895064238951394E082-14130
chr183896971238969762E0824188