rs7313312

Homo sapiens
T>A / T>C
UTP20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0201 (6024/29950,GnomAD)
C=0193 (5626/29118,TOPMED)
C=0236 (1180/5008,1000G)
C=0225 (868/3854,ALSPAC)
C=0228 (844/3708,TWINSUK)
chr12:101361905 (GRCh38.p7) (12q23.2)
AD
GWASdb2
2   publication(s)
See rs on genome
10 Enhancers around
28 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.101361905T>A
GRCh38.p7 chr 12NC_000012.12:g.101361905T>C
GRCh37.p13 chr 12NC_000012.11:g.101755683T>A
GRCh37.p13 chr 12NC_000012.11:g.101755683T>C

Gene: UTP20, UTP20, small subunit processome component(plus strand)

Molecule type Change Amino acid[Codon] SO Term
UTP20 transcriptNM_014503.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.908C=0.092
1000GenomesAmericanSub694T=0.710C=0.290
1000GenomesEast AsianSub1008T=0.625C=0.375
1000GenomesEuropeSub1006T=0.771C=0.229
1000GenomesGlobalStudy-wide5008T=0.764C=0.236
1000GenomesSouth AsianSub978T=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.775C=0.225
The Genome Aggregation DatabaseAfricanSub8724T=0.888C=0.112
The Genome Aggregation DatabaseAmericanSub836T=0.690C=0.310
The Genome Aggregation DatabaseEast AsianSub1612T=0.644C=0.356
The Genome Aggregation DatabaseEuropeSub18478T=0.776C=0.223
The Genome Aggregation DatabaseGlobalStudy-wide29950T=0.798C=0.201
The Genome Aggregation DatabaseOtherSub300T=0.720C=0.280
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.806C=0.193
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.772C=0.228
PMID Title Author Journal
24962325Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.Kapoor MDrug Alcohol Depend
23089632A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.Wang JCMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs73133120.00000012alcohol dependence (age at onset)24962325
rs73133120.0000103alcohol dependence23089632

eQTL of rs7313312 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 rs7313312 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 )
chr12101802840101802918E06847920
chr12101802965101803022E06848045
chr12101803180101803241E06848260
chr12101802840101802918E06947920
chr12101802965101803022E06948045
chr12101802840101802918E07247920
chr12101802965101803022E07248045
chr12101802840101802918E08147920
chr12101802965101803022E08148045
chr12101803180101803241E08148260




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12101800404101802349E06745484
chr12101802426101802479E06747506
chr12101802582101802752E06747662
chr12101800404101802349E06845484
chr12101802426101802479E06847506
chr12101802582101802752E06847662
chr12101800404101802349E06945484
chr12101802426101802479E06947506
chr12101802582101802752E06947662
chr12101800404101802349E07045484
chr12101802426101802479E07047506
chr12101802582101802752E07047662
chr12101800404101802349E07145484
chr12101802426101802479E07147506
chr12101802582101802752E07147662
chr12101800404101802349E07245484
chr12101802426101802479E07247506
chr12101802582101802752E07247662
chr12101800404101802349E07345484
chr12101802426101802479E07347506
chr12101802582101802752E07347662
chr12101800404101802349E07445484
chr12101802426101802479E07447506
chr12101802582101802752E07447662
chr12101800404101802349E08145484
chr12101800404101802349E08245484
chr12101802426101802479E08247506
chr12101802582101802752E08247662