rs10507130

Homo sapiens
G>A
UTP20 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0190 (5693/29932,GnomAD)
A=0178 (5198/29118,TOPMED)
A=0222 (1114/5008,1000G)
A=0225 (866/3854,ALSPAC)
A=0228 (844/3708,TWINSUK)
chr12:101360176 (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.101360176G>A
GRCh37.p13 chr 12NC_000012.11:g.101753954G>A

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
1000GenomesAfricanSub1322G=0.953A=0.047
1000GenomesAmericanSub694G=0.710A=0.290
1000GenomesEast AsianSub1008G=0.625A=0.375
1000GenomesEuropeSub1006G=0.771A=0.229
1000GenomesGlobalStudy-wide5008G=0.778A=0.222
1000GenomesSouth AsianSub978G=0.750A=0.250
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.775A=0.225
The Genome Aggregation DatabaseAfricanSub8722G=0.924A=0.076
The Genome Aggregation DatabaseAmericanSub838G=0.690A=0.310
The Genome Aggregation DatabaseEast AsianSub1610G=0.645A=0.355
The Genome Aggregation DatabaseEuropeSub18462G=0.776A=0.223
The Genome Aggregation DatabaseGlobalStudy-wide29932G=0.809A=0.190
The Genome Aggregation DatabaseOtherSub300G=0.750A=0.250
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.821A=0.178
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.772A=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
17903303Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.O'Donnell CJBMC Med Genet

P-Value

SNP ID p-value Traits Study
rs105071301.2E-07alcohol dependence (age at onset)24962325

eQTL of rs10507130 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 rs10507130 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 )
chr12101802840101802918E06848886
chr12101802965101803022E06849011
chr12101803180101803241E06849226
chr12101802840101802918E06948886
chr12101802965101803022E06949011
chr12101802840101802918E07248886
chr12101802965101803022E07249011
chr12101802840101802918E08148886
chr12101802965101803022E08149011
chr12101803180101803241E08149226




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12101800404101802349E06746450
chr12101802426101802479E06748472
chr12101802582101802752E06748628
chr12101800404101802349E06846450
chr12101802426101802479E06848472
chr12101802582101802752E06848628
chr12101800404101802349E06946450
chr12101802426101802479E06948472
chr12101802582101802752E06948628
chr12101800404101802349E07046450
chr12101802426101802479E07048472
chr12101802582101802752E07048628
chr12101800404101802349E07146450
chr12101802426101802479E07148472
chr12101802582101802752E07148628
chr12101800404101802349E07246450
chr12101802426101802479E07248472
chr12101802582101802752E07248628
chr12101800404101802349E07346450
chr12101802426101802479E07348472
chr12101802582101802752E07348628
chr12101800404101802349E07446450
chr12101802426101802479E07448472
chr12101802582101802752E07448628
chr12101800404101802349E08146450
chr12101800404101802349E08246450
chr12101802426101802479E08248472
chr12101802582101802752E08248628