rs10498486

Homo sapiens
T>C
AP5M1 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0189 (5666/29858,GnomAD)
T==0273 (7949/29118,TOPMED)
T==0221 (1107/5008,1000G)
T==0057 (219/3854,ALSPAC)
T==0058 (215/3708,TWINSUK)
chr14:57292674 (GRCh38.p7) (14q22.3)
AD
GWASdb2
1   publication(s)
See rs on genome
50 Enhancers around
35 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.57292674T>C
GRCh37.p13 chr 14NC_000014.8:g.57759392T>C

Gene: AP5M1, adaptor related protein complex 5 mu 1 subunit(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AP5M1 transcript variant 1NM_018229.3:c.N/AGenic Downstream Transcript Variant
AP5M1 transcript variant 2NR_026895.1:n.N/AGenic Downstream Transcript Variant
AP5M1 transcript variant X2XM_006720196.2:c.N/A3 Prime UTR Variant
AP5M1 transcript variant X1XM_011536940.2:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.646C=0.354
1000GenomesAmericanSub694T=0.070C=0.930
1000GenomesEast AsianSub1008T=0.066C=0.934
1000GenomesEuropeSub1006T=0.056C=0.944
1000GenomesGlobalStudy-wide5008T=0.221C=0.779
1000GenomesSouth AsianSub978T=0.080C=0.920
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.057C=0.943
The Genome Aggregation DatabaseAfricanSub8696T=0.537C=0.463
The Genome Aggregation DatabaseAmericanSub830T=0.070C=0.930
The Genome Aggregation DatabaseEast AsianSub1594T=0.057C=0.943
The Genome Aggregation DatabaseEuropeSub18436T=0.044C=0.956
The Genome Aggregation DatabaseGlobalStudy-wide29858T=0.189C=0.810
The Genome Aggregation DatabaseOtherSub302T=0.100C=0.900
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.273C=0.727
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.058C=0.942
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs104984869.88E-05alcohol consumption23743675

eQTL of rs10498486 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 rs10498486 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 )
chr145773227857732427E067-26965
chr145773245857732577E067-26815
chr145773286157733116E067-26276
chr145773317257733273E067-26119
chr145773352257733779E067-25613
chr145773391657733990E067-25402
chr145773866557738723E067-20669
chr145771797557718025E068-41367
chr145773352257733779E068-25613
chr145773391657733990E068-25402
chr145773792357737971E068-21421
chr145773807557738166E068-21226
chr145772167257721873E069-37519
chr145772213357722183E069-37209
chr145773792357737971E069-21421
chr145773227857732427E070-26965
chr145773245857732577E070-26815
chr145773792357737971E070-21421
chr145773807557738166E070-21226
chr145771797557718025E071-41367
chr145772167257721873E071-37519
chr145772213357722183E071-37209
chr145773227857732427E071-26965
chr145773245857732577E071-26815
chr145773286157733116E071-26276
chr145773317257733273E071-26119
chr145773352257733779E071-25613
chr145773792357737971E071-21421
chr145773807557738166E071-21226
chr145772167257721873E072-37519
chr145772213357722183E072-37209
chr145773391657733990E072-25402
chr145773792357737971E072-21421
chr145773792357737971E073-21421
chr145773807557738166E073-21226
chr145772167257721873E074-37519
chr145772213357722183E074-37209
chr145772312357723173E074-36219
chr145772331857723368E074-36024
chr145773286157733116E074-26276
chr145773317257733273E074-26119
chr145773391657733990E074-25402
chr145773792357737971E074-21421
chr145773807557738166E074-21226
chr145773286157733116E081-26276
chr145773317257733273E081-26119
chr145773352257733779E081-25613
chr145773391657733990E081-25402
chr145773792357737971E081-21421
chr145773807557738166E081-21226









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr145773455457734668E067-24724
chr145773474057736585E067-22807
chr145773674957736822E067-22570
chr145773694557736999E067-22393
chr145773455457734668E068-24724
chr145773474057736585E068-22807
chr145773674957736822E068-22570
chr145773694557736999E068-22393
chr145773455457734668E069-24724
chr145773474057736585E069-22807
chr145773674957736822E069-22570
chr145773694557736999E069-22393
chr145773455457734668E070-24724
chr145773474057736585E070-22807
chr145773674957736822E070-22570
chr145773694557736999E070-22393
chr145773455457734668E071-24724
chr145773474057736585E071-22807
chr145773674957736822E071-22570
chr145773694557736999E071-22393
chr145773474057736585E072-22807
chr145773674957736822E072-22570
chr145773694557736999E072-22393
chr145773455457734668E073-24724
chr145773474057736585E073-22807
chr145773674957736822E073-22570
chr145773694557736999E073-22393
chr145773455457734668E074-24724
chr145773474057736585E074-22807
chr145773455457734668E081-24724
chr145773474057736585E081-22807
chr145773455457734668E082-24724
chr145773474057736585E082-22807
chr145773674957736822E082-22570
chr145773694557736999E082-22393