rs1397598

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0318 (9530/29930,GnomAD)
G=0245 (7149/29118,TOPMED)
G=0318 (1592/5008,1000G)
G=0387 (1491/3854,ALSPAC)
G=0382 (1418/3708,TWINSUK)
chr11:7937281 (GRCh38.p7) (11p15.4)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
2 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.7937281A>G
GRCh37.p13 chr 11NC_000011.9:g.7958828A>G
GRCh38.p7 chr 11 novel patch HSCHR11_1_CTG1_2NW_011332695.1:g.168275A>G
GRCh38.p7 chr 11 alt locus HSCHR11_1_CTG5NT_187583.1:g.168782A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.949G=0.051
1000GenomesAmericanSub694A=0.650G=0.350
1000GenomesEast AsianSub1008A=0.513G=0.487
1000GenomesEuropeSub1006A=0.586G=0.414
1000GenomesGlobalStudy-wide5008A=0.682G=0.318
1000GenomesSouth AsianSub978A=0.620G=0.380
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.613G=0.387
The Genome Aggregation DatabaseAfricanSub8722A=0.908G=0.092
The Genome Aggregation DatabaseAmericanSub834A=0.640G=0.360
The Genome Aggregation DatabaseEast AsianSub1608A=0.507G=0.493
The Genome Aggregation DatabaseEuropeSub18464A=0.594G=0.405
The Genome Aggregation DatabaseGlobalStudy-wide29930A=0.681G=0.318
The Genome Aggregation DatabaseOtherSub302A=0.520G=0.480
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.754G=0.245
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.618G=0.382
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs13975985.5E-05alcohol consumption23953852

eQTL of rs1397598 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 rs1397598 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 )
chr1180076118007848E06748783
chr1180076118007848E06848783
chr1180076118007848E06948783
chr1179858687986265E07027040
chr1180076118007848E07048783
chr1180072428007477E07248414
chr1180075268007574E07248698
chr1180076118007848E07248783
chr1180076118007848E07348783
chr1180076118007848E07448783
chr1179858687986265E08227040
chr1180069938007037E08248165
chr1180072428007477E08248414
chr1180075268007574E08248698
chr1180076118007848E08248783








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1179492487949467E074-9361
chr1179494767949625E074-9203