rs55721648

Homo sapiens
C>A / C>T
UTP20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0226 (1130/5008,1000G)
A=0199 (767/3854,ALSPAC)
A=0200 (743/3708,TWINSUK)
chr12:101321424 (GRCh38.p7) (12q23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.101321424C>A
GRCh38.p7 chr 12NC_000012.12:g.101321424C>T
GRCh37.p13 chr 12NC_000012.11:g.101715202C>A
GRCh37.p13 chr 12NC_000012.11:g.101715202C>T

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
1000GenomesAfricanSub1322C=0.904A=0.096
1000GenomesAmericanSub694C=0.710A=0.290
1000GenomesEast AsianSub1008C=0.626A=0.374
1000GenomesEuropeSub1006C=0.792A=0.208
1000GenomesGlobalStudy-wide5008C=0.774A=0.226
1000GenomesSouth AsianSub978C=0.780A=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.801A=0.199
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.800A=0.200
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
rs557216487.23E-06alcohol dependence (age at onset)24962325

eQTL of rs55721648 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 rs55721648 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 )
chr121066599610666036E071-12807