rs57083693

Homo sapiens
T>C
UTP20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0221 (6587/29786,GnomAD)
C=0226 (6592/29118,TOPMED)
C=0256 (1284/5008,1000G)
C=0229 (883/3854,ALSPAC)
C=0233 (863/3708,TWINSUK)
chr12:101348402 (GRCh38.p7) (12q23.2)
AD
GWASdb2 | GWASCatalog
1   publication(s)
See rs on genome
2 Enhancers around
16 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.101348402T>C
GRCh37.p13 chr 12NC_000012.11:g.101742180T>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=0.846C=0.154
1000GenomesAmericanSub694T=0.680C=0.320
1000GenomesEast AsianSub1008T=0.625C=0.375
1000GenomesEuropeSub1006T=0.762C=0.238
1000GenomesGlobalStudy-wide5008T=0.744C=0.256
1000GenomesSouth AsianSub978T=0.750C=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.771C=0.229
The Genome Aggregation DatabaseAfricanSub8714T=0.829C=0.171
The Genome Aggregation DatabaseAmericanSub832T=0.660C=0.340
The Genome Aggregation DatabaseEast AsianSub1616T=0.644C=0.356
The Genome Aggregation DatabaseEuropeSub18324T=0.773C=0.226
The Genome Aggregation DatabaseGlobalStudy-wide29786T=0.778C=0.221
The Genome Aggregation DatabaseOtherSub300T=0.710C=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.773C=0.226
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.767C=0.233
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

P-Value

SNP ID p-value Traits Study
rs570836934E-08alcohol dependence (age at onset)24962325

eQTL of rs57083693 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 rs57083693 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 )
chr12101692243101692491E067-49689
chr12101692243101692491E069-49689


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12101692853101693016E067-49164
chr12101693076101693399E067-48781
chr12101693724101694082E067-48098
chr12101692853101693016E068-49164
chr12101693076101693399E068-48781
chr12101692853101693016E069-49164
chr12101693076101693399E069-48781
chr12101693724101694082E069-48098
chr12101692853101693016E071-49164
chr12101693076101693399E071-48781
chr12101693724101694082E071-48098
chr12101692853101693016E072-49164
chr12101693076101693399E072-48781
chr12101692853101693016E074-49164
chr12101693076101693399E074-48781
chr12101693724101694082E074-48098