rs6997052

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0477 (14274/29896,GnomAD)
A=0497 (14493/29118,TOPMED)
G==0418 (2091/5008,1000G)
A=0318 (1226/3854,ALSPAC)
A=0317 (1175/3708,TWINSUK)
chr8:59301470 (GRCh38.p7) (8q12.1)
AD
GWASdb2
1   publication(s)
See rs on genome
49 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.59301470G>A
GRCh37.p13 chr 8NC_000008.10:g.60214029G>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.263A=0.737
1000GenomesAmericanSub694G=0.400A=0.600
1000GenomesEast AsianSub1008G=0.222A=0.778
1000GenomesEuropeSub1006G=0.669A=0.331
1000GenomesGlobalStudy-wide5008G=0.418A=0.582
1000GenomesSouth AsianSub978G=0.580A=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.682A=0.318
The Genome Aggregation DatabaseAfricanSub8700G=0.314A=0.686
The Genome Aggregation DatabaseAmericanSub834G=0.420A=0.580
The Genome Aggregation DatabaseEast AsianSub1600G=0.221A=0.779
The Genome Aggregation DatabaseEuropeSub18460G=0.648A=0.351
The Genome Aggregation DatabaseGlobalStudy-wide29896G=0.522A=0.477
The Genome Aggregation DatabaseOtherSub302G=0.690A=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.502A=0.497
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.683A=0.317
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs69970520.000797alcohol dependence20201924

eQTL of rs6997052 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 rs6997052 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 )
chr86021845560218555E0704426
chr86021860160218688E0704572
chr86022255460222634E0708525
chr86022266860222711E0708639
chr86017752860177642E081-36387
chr86019471960194848E081-19181
chr86019690260197019E081-17010
chr86019712960197231E081-16798
chr86019750060197883E081-16146
chr86020216260202586E081-11443
chr86020264060202734E081-11295
chr86020293360202983E081-11046
chr86020325160203301E081-10728
chr86020396360204309E081-9720
chr86021322260213821E081-208
chr86021384460214066E0810
chr86021742160217543E0813392
chr86021766360217964E0813634
chr86021797160218418E0813942
chr86021845560218555E0814426
chr86021860160218688E0814572
chr86021897660220190E0814947
chr86022022960220412E0816200
chr86022072760220781E0816698
chr86022120360222071E0817174
chr86022209460222144E0818065
chr86022246360222529E0818434
chr86022255460222634E0818525
chr86022266860222711E0818639
chr86022309560223296E0819066
chr86022377560223815E0819746
chr86022409260224142E08110063
chr86022471660224897E08110687
chr86019471960194848E082-19181
chr86019690260197019E082-17010
chr86019712960197231E082-16798
chr86020264060202734E082-11295
chr86020293360202983E082-11046
chr86020325160203301E082-10728
chr86021797160218418E0823942
chr86021845560218555E0824426
chr86021860160218688E0824572
chr86022072760220781E0826698
chr86022120360222071E0827174
chr86022209460222144E0828065
chr86022246360222529E0828434
chr86022255460222634E0828525
chr86022266860222711E0828639
chr86022309560223296E0829066