rs1075080

Homo sapiens
A>G
None
Check p-value
SNV (Single Nucleotide Variation)
G=0462 (13822/29888,GnomAD)
A==0493 (14366/29118,TOPMED)
A==0434 (2172/5008,1000G)
G=0391 (1508/3854,ALSPAC)
G=0399 (1480/3708,TWINSUK)
chr21:16672334 (GRCh38.p7) (21q21.1)
AD
GWASdb2
1   publication(s)
See rs on genome
40 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.16672334A>G
GRCh37.p13 chr 21NC_000021.8:g.18044653A>G

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.377G=0.623
1000GenomesAmericanSub694A=0.680G=0.320
1000GenomesEast AsianSub1008A=0.235G=0.765
1000GenomesEuropeSub1006A=0.613G=0.387
1000GenomesGlobalStudy-wide5008A=0.434G=0.566
1000GenomesSouth AsianSub978A=0.360G=0.640
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.609G=0.391
The Genome Aggregation DatabaseAfricanSub8716A=0.405G=0.595
The Genome Aggregation DatabaseAmericanSub836A=0.720G=0.280
The Genome Aggregation DatabaseEast AsianSub1612A=0.221G=0.779
The Genome Aggregation DatabaseEuropeSub18422A=0.620G=0.379
The Genome Aggregation DatabaseGlobalStudy-wide29888A=0.537G=0.462
The Genome Aggregation DatabaseOtherSub302A=0.460G=0.540
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.493G=0.506
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.601G=0.399
PMID Title Author Journal

P-Value

SNP ID p-value Traits Study
rs10750807.31E-05alcohol consumptionpha001399

eQTL of rs1075080 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 rs1075080 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 )
chr211799688717997250E068-47403
chr211799731117997433E068-47220
chr211799688717997250E070-47403
chr211799731117997433E070-47220
chr211800510918005159E070-39494
chr211800524218005379E070-39274
chr211800546218005734E070-38919
chr211800574018005790E070-38863
chr211800593518005980E070-38673
chr211800607418007263E070-37390
chr211800733218007424E070-37229
chr211800749718007620E070-37033
chr211799688717997250E074-47403
chr211799731117997433E074-47220
chr211799688717997250E081-47403
chr211799731117997433E081-47220
chr211799749117997592E081-47061
chr211800546218005734E081-38919
chr211800574018005790E081-38863
chr211800593518005980E081-38673
chr211800607418007263E081-37390
chr211800733218007424E081-37229
chr211800749718007620E081-37033
chr211801887818019014E081-25639
chr211801928718019600E081-25053
chr211802148618021741E081-22912
chr211802180418021943E081-22710
chr211802194818022382E081-22271
chr211802268918022796E081-21857
chr211799688717997250E082-47403
chr211799731117997433E082-47220
chr211800510918005159E082-39494
chr211800524218005379E082-39274
chr211800546218005734E082-38919
chr211800574018005790E082-38863
chr211800593518005980E082-38673
chr211800607418007263E082-37390
chr211800733218007424E082-37229
chr211800749718007620E082-37033
chr211802194818022382E082-22271