rs7977587

Homo sapiens
A>G
UTP20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0226 (6591/29118,TOPMED)
G=0227 (6434/28330,GnomAD)
G=0256 (1284/5008,1000G)
G=0229 (884/3854,ALSPAC)
G=0233 (864/3708,TWINSUK)
chr12:101340906 (GRCh38.p7) (12q23.2)
AD
GWASdb2
1   publication(s)
See rs on genome
8 Enhancers around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.101340906A>G
GRCh37.p13 chr 12NC_000012.11:g.101734684A>G

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
1000GenomesAfricanSub1322A=0.846G=0.154
1000GenomesAmericanSub694A=0.680G=0.320
1000GenomesEast AsianSub1008A=0.625G=0.375
1000GenomesEuropeSub1006A=0.762G=0.238
1000GenomesGlobalStudy-wide5008A=0.744G=0.256
1000GenomesSouth AsianSub978A=0.750G=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.771G=0.229
The Genome Aggregation DatabaseAfricanSub8452A=0.828G=0.172
The Genome Aggregation DatabaseAmericanSub776A=0.650G=0.350
The Genome Aggregation DatabaseEast AsianSub1570A=0.646G=0.354
The Genome Aggregation DatabaseEuropeSub17234A=0.764G=0.236
The Genome Aggregation DatabaseGlobalStudy-wide28330A=0.772G=0.227
The Genome Aggregation DatabaseOtherSub298A=0.710G=0.290
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.773G=0.226
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.767G=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
rs79775871.66E-07alcohol dependence (age at onset)24962325

eQTL of rs7977587 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 rs7977587 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 )
chr12101691390101691641E067-43043
chr12101692002101692211E067-42473
chr12101692243101692491E067-42193
chr12101692002101692211E069-42473
chr12101692243101692491E069-42193
chr12101691390101691641E071-43043
chr12101691390101691641E072-43043
chr12101692002101692211E072-42473




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12101692853101693016E067-41668
chr12101693076101693399E067-41285
chr12101693724101694082E067-40602
chr12101692853101693016E068-41668
chr12101693076101693399E068-41285
chr12101692853101693016E069-41668
chr12101693076101693399E069-41285
chr12101693724101694082E069-40602
chr12101692853101693016E071-41668
chr12101693076101693399E071-41285
chr12101693724101694082E071-40602
chr12101692853101693016E072-41668
chr12101693076101693399E072-41285
chr12101692853101693016E074-41668
chr12101693076101693399E074-41285
chr12101693724101694082E074-40602