rs2275928

Homo sapiens
G>A
AKR1C3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0458 (42725/93180,ExAC)
G==0410 (12286/29916,GnomAD)
G==0388 (11311/29118,TOPMED)
A=0391 (5088/13006,GO-ESP)
A=0461 (2309/5008,1000G)
G==0401 (1544/3854,ALSPAC)
G==0419 (1555/3708,TWINSUK)
chr10:5105717 (GRCh38.p7) (10p15.1)
AD
GWASdb2
3   publication(s)
See rs on genome
22 Enhancers around
39 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.5105717G>A
GRCh37.p13 chr 10 fix patch HG871_PATCHNW_003871071.1:g.135383G>A
GRCh37.p13 chr 10NC_000010.10:g.5147909G>A

Gene: AKR1C3, aldo-keto reductase family 1, member C3(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AKR1C3 transcript variant 2NM_001253908.1:c.N/AIntron Variant
AKR1C3 transcript variant 1NM_003739.5:c.N/AIntron Variant
AKR1C3 transcript variant 3NM_001253909.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.375A=0.625
1000GenomesAmericanSub694G=0.590A=0.410
1000GenomesEast AsianSub1008G=0.784A=0.216
1000GenomesEuropeSub1006G=0.375A=0.625
1000GenomesGlobalStudy-wide5008G=0.539A=0.461
1000GenomesSouth AsianSub978G=0.640A=0.360
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.401A=0.599
The Exome Aggregation ConsortiumAmericanSub17466G=0.479A=0.520
The Exome Aggregation ConsortiumAsianSub20092G=0.627A=0.372
The Exome Aggregation ConsortiumEuropeSub54862G=0.390A=0.609
The Exome Aggregation ConsortiumGlobalStudy-wide93180G=0.458A=0.541
The Exome Aggregation ConsortiumOtherSub760G=0.430A=0.570
The Genome Aggregation DatabaseAfricanSub8712G=0.355A=0.645
The Genome Aggregation DatabaseAmericanSub836G=0.590A=0.410
The Genome Aggregation DatabaseEast AsianSub1612G=0.751A=0.249
The Genome Aggregation DatabaseEuropeSub18454G=0.398A=0.601
The Genome Aggregation DatabaseGlobalStudy-wide29916G=0.410A=0.589
The Genome Aggregation DatabaseOtherSub302G=0.450A=0.550
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.388A=0.611
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.419A=0.581
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
18632753Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes.Figueroa JDCarcinogenesis
19252927Bladder cancer SNP panel predicts susceptibility and survival.Andrew ASHum Genet

P-Value

SNP ID p-value Traits Study
rs22759280.00022alcohol dependence20201924

eQTL of rs2275928 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 rs2275928 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 )
chr10178436178496E06743053
chr10178625179211E06743242
chr10183571183902E06748188
chr10183930184032E06748547
chr10176210176340E06840827
chr10178436178496E06843053
chr10178625179211E06843242
chr10178436178496E06943053
chr10178625179211E06943242
chr10184511184585E07049128
chr10175394175519E07140011
chr10175631176143E07140248
chr10176210176340E07140827
chr10178436178496E07143053
chr10178625179211E07143242
chr10175394175519E07340011
chr10176210176340E07340827
chr10178625179211E07443242
chr10178625179211E08143242
chr10184511184585E08149128
chr10178436178496E08243053
chr10178625179211E08243242









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10119595120326E067-15057
chr10122295122751E067-12632
chr10179336183531E06743953
chr10119595120326E068-15057
chr10122074122270E068-13113
chr10122295122751E068-12632
chr10122764122872E068-12511
chr10179336183531E06843953
chr10119595120326E069-15057
chr10122074122270E069-13113
chr10122295122751E069-12632
chr10179336183531E06943953
chr10119595120326E070-15057
chr10120395120445E070-14938
chr10122074122270E070-13113
chr10122295122751E070-12632
chr10179336183531E07043953
chr10119595120326E071-15057
chr10122074122270E071-13113
chr10122295122751E071-12632
chr10179336183531E07143953
chr10122074122270E072-13113
chr10122295122751E072-12632
chr10179336183531E07243953
chr10119595120326E073-15057
chr10122074122270E073-13113
chr10122295122751E073-12632
chr10179336183531E07343953
chr10119595120326E074-15057
chr10122074122270E074-13113
chr10122295122751E074-12632
chr10179336183531E07443953
chr10179336183531E08143953
chr10119595120326E082-15057
chr10120395120445E082-14938
chr10122074122270E082-13113
chr10122295122751E082-12632
chr10122764122872E082-12511
chr10179336183531E08243953