rs2295310

Homo sapiens
C>T
DHRS1 : Intron Variant
LOC102725044 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0315 (9434/29876,GnomAD)
T=0303 (8834/29118,TOPMED)
T=0441 (2210/5008,1000G)
T=0238 (918/3854,ALSPAC)
T=0233 (863/3708,TWINSUK)
chr14:24291049 (GRCh38.p7) (14q12)
AD
GWASdb2
1   publication(s)
See rs on genome
52 Enhancers around
41 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.24291049C>T
GRCh37.p13 chr 14NC_000014.8:g.24760255C>T

Gene: DHRS1, dehydrogenase/reductase (SDR family) member 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DHRS1 transcript variant 1NM_001136050.2:c.N/AIntron Variant
DHRS1 transcript variant 2NM_138452.2:c.N/AIntron Variant

Gene: LOC102725044, uncharacterized LOC102725044(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC102725044 transcript variant X2XR_001750661.1:n.N/AIntron Variant
LOC102725044 transcript variant X6XR_001750664.1:n.N/AIntron Variant
LOC102725044 transcript variant X5XR_943620.1:n.N/AIntron Variant
LOC102725044 transcript variant X1XR_001750660.1:n.N/AGenic Upstream Transcript Variant
LOC102725044 transcript variant X3XR_001750662.1:n.N/AGenic Upstream Transcript Variant
LOC102725044 transcript variant X4XR_001750663.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.659T=0.341
1000GenomesAmericanSub694C=0.720T=0.280
1000GenomesEast AsianSub1008C=0.286T=0.714
1000GenomesEuropeSub1006C=0.708T=0.292
1000GenomesGlobalStudy-wide5008C=0.559T=0.441
1000GenomesSouth AsianSub978C=0.440T=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.762T=0.238
The Genome Aggregation DatabaseAfricanSub8690C=0.672T=0.328
The Genome Aggregation DatabaseAmericanSub834C=0.730T=0.270
The Genome Aggregation DatabaseEast AsianSub1608C=0.294T=0.706
The Genome Aggregation DatabaseEuropeSub18442C=0.722T=0.277
The Genome Aggregation DatabaseGlobalStudy-wide29876C=0.684T=0.315
The Genome Aggregation DatabaseOtherSub302C=0.650T=0.350
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.696T=0.303
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.767T=0.233
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
rs22953100.00049alcohol dependence20201924

eQTL of rs2295310 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 rs2295310 in Fetal Brain

Probe ID Position Gene beta p-value
cg16194253chr14:24768981C14orf21|DHRS1-0.01451670215926051.2253e-10

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 )
chr142474826624749232E067-11023
chr142474923924749501E067-10754
chr142474962724749677E067-10578
chr142474970924749759E067-10496
chr142474978824749868E067-10387
chr142474995224750026E067-10229
chr142476561924765669E0675364
chr142476571524766734E0675460
chr142478179924782080E06721544
chr142476787924767929E0687624
chr142477686524777978E06816610
chr142478179924782080E06821544
chr142478301524783117E06822760
chr142478316024783935E06822905
chr142478482624786110E06824571
chr142474775024747870E069-12385
chr142474802224748163E069-12092
chr142474818224748222E069-12033
chr142474826624749232E069-11023
chr142474923924749501E069-10754
chr142476571524766734E0695460
chr142476787924767929E0697624
chr142478179924782080E06921544
chr142478301524783117E06922760
chr142475017124750394E070-9861
chr142479537524795433E07035120
chr142474640924746576E071-13679
chr142474826624749232E071-11023
chr142474923924749501E071-10754
chr142476787924767929E0717624
chr142477866124778972E07118406
chr142478179924782080E07121544
chr142478301524783117E07122760
chr142478316024783935E07122905
chr142478393924784423E07123684
chr142478475824784812E07124503
chr142480560624805676E07145351
chr142474826624749232E072-11023
chr142474923924749501E072-10754
chr142478482624786110E07224571
chr142478179924782080E07321544
chr142474775024747870E074-12385
chr142474818224748222E074-12033
chr142474826624749232E074-11023
chr142474923924749501E074-10754
chr142476571524766734E0745460
chr142478316024783935E07422905
chr142478393924784423E07423684
chr142480783924808048E07447584
chr142476787924767929E0817624
chr142478482624786110E08124571
chr142475384324753989E082-6266










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr142471085624713253E067-47002
chr142473983624741614E067-18641
chr142476809324769868E0677838
chr142480837624809523E06748121
chr142471085624713253E068-47002
chr142473983624741614E068-18641
chr142476809324769868E0687838
chr142480079524802449E06840540
chr142480261824804555E06842363
chr142480837624809523E06848121
chr142471085624713253E069-47002
chr142473983624741614E069-18641
chr142476809324769868E0697838
chr142480261824804555E06942363
chr142480837624809523E06948121
chr142471085624713253E070-47002
chr142473983624741614E070-18641
chr142476809324769868E0707838
chr142471085624713253E071-47002
chr142473983624741614E071-18641
chr142476809324769868E0717838
chr142480837624809523E07148121
chr142471085624713253E072-47002
chr142473983624741614E072-18641
chr142476809324769868E0727838
chr142480261824804555E07242363
chr142471085624713253E073-47002
chr142473983624741614E073-18641
chr142476809324769868E0737838
chr142480261824804555E07342363
chr142480837624809523E07348121
chr142471085624713253E074-47002
chr142473983624741614E074-18641
chr142476809324769868E0747838
chr142480837624809523E07448121
chr142471085624713253E081-47002
chr142473983624741614E081-18641
chr142476809324769868E0817838
chr142471085624713253E082-47002
chr142473983624741614E082-18641
chr142476809324769868E0827838