rs13262

Homo sapiens
T>C
AP2M1 : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0007 (856/117312,ExAC)
C=0024 (726/29928,GnomAD)
C=0037 (1100/29118,TOPMED)
T==0025 (309/12252,GO-ESP)
C=0026 (131/5008,1000G)
C=0000 (1/3854,ALSPAC)
C=0000 (1/3708,TWINSUK)
chr3:184183601 (GRCh38.p7) (3q27.1)
AD
GWASdb2
1   publication(s)
See rs on genome
112 Enhancers around
67 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.184183601T>C
GRCh37.p13 chr 3NC_000003.11:g.183901389T>C

Gene: AP2M1, adaptor related protein complex 2 mu 1 subunit(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AP2M1 transcript variant 1NM_004068.3:c.129...NM_004068.3:c.1293T>CY [TAT]> Y [TAC]Coding Sequence Variant
AP-2 complex subunit mu isoform aNP_004059.2:p.Tyr...NP_004059.2:p.Tyr431=Y [Tyr]> Y [Tyr]Synonymous Variant
AP2M1 transcript variant 2NM_001025205.1:c....NM_001025205.1:c.1287T>CY [TAT]> Y [TAC]Coding Sequence Variant
AP-2 complex subunit mu isoform bNP_001020376.1:p....NP_001020376.1:p.Tyr429=Y [Tyr]> Y [Tyr]Synonymous Variant
AP2M1 transcript variant 3NM_001311198.1:c....NM_001311198.1:c.1368T>CY [TAT]> Y [TAC]Coding Sequence Variant
AP-2 complex subunit mu isoform cNP_001298127.1:p....NP_001298127.1:p.Tyr456=Y [Tyr]> Y [Tyr]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.903C=0.097
1000GenomesAmericanSub694T=1.000C=0.000
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=1.000C=0.000
1000GenomesGlobalStudy-wide5008T=0.974C=0.026
1000GenomesSouth AsianSub978T=1.000C=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=1.000C=0.000
The Exome Aggregation ConsortiumAmericanSub20600T=0.959C=0.040
The Exome Aggregation ConsortiumAsianSub24616T=0.999C=0.000
The Exome Aggregation ConsortiumEuropeSub71232T=0.999C=0.000
The Exome Aggregation ConsortiumGlobalStudy-wide117312T=0.992C=0.007
The Exome Aggregation ConsortiumOtherSub864T=1.000C=0.000
The Genome Aggregation DatabaseAfricanSub8714T=0.918C=0.082
The Genome Aggregation DatabaseAmericanSub838T=0.990C=0.010
The Genome Aggregation DatabaseEast AsianSub1622T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18452T=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29928T=0.975C=0.024
The Genome Aggregation DatabaseOtherSub302T=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.962C=0.037
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=1.000C=0.000
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs132620.000342alcohol dependence20201924

eQTL of rs13262 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr3:183901389RP11-329B9.5ENSG00000272922.1T>C1.2580e-2-559217Nucleus_accumbens_basal_ganglia

meQTL of rs13262 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 )
chr3183871275183871381E067-30008
chr3183875748183875798E067-25591
chr3183876190183876283E067-25106
chr3183876331183876470E067-24919
chr3183877466183877626E067-23763
chr3183878299183878502E067-22887
chr3183878552183878971E067-22418
chr3183894921183895435E067-5954
chr3183895571183895795E067-5594
chr3183896296183896416E067-4973
chr3183896426183896584E067-4805
chr3183903024183903117E0671635
chr3183855090183855150E068-46239
chr3183855157183855217E068-46172
chr3183855259183855328E068-46061
chr3183871467183871588E068-29801
chr3183875748183875798E068-25591
chr3183876190183876283E068-25106
chr3183876331183876470E068-24919
chr3183877466183877626E068-23763
chr3183878299183878502E068-22887
chr3183878552183878971E068-22418
chr3183895571183895795E068-5594
chr3183896296183896416E068-4973
chr3183896426183896584E068-4805
chr3183903024183903117E0681635
chr3183905682183905751E0684293
chr3183855090183855150E069-46239
chr3183855157183855217E069-46172
chr3183855259183855328E069-46061
chr3183871162183871239E069-30150
chr3183871275183871381E069-30008
chr3183871467183871588E069-29801
chr3183875748183875798E069-25591
chr3183876190183876283E069-25106
chr3183876331183876470E069-24919
chr3183878299183878502E069-22887
chr3183878552183878971E069-22418
chr3183891484183891728E069-9661
chr3183895571183895795E069-5594
chr3183905682183905751E0694293
chr3183855090183855150E070-46239
chr3183855157183855217E070-46172
chr3183871162183871239E070-30150
chr3183871275183871381E070-30008
chr3183871467183871588E070-29801
chr3183876190183876283E070-25106
chr3183876331183876470E070-24919
chr3183896296183896416E070-4973
chr3183896426183896584E070-4805
chr3183905682183905751E0704293
chr3183855090183855150E071-46239
chr3183855157183855217E071-46172
chr3183855259183855328E071-46061
chr3183871467183871588E071-29801
chr3183875748183875798E071-25591
chr3183876190183876283E071-25106
chr3183876331183876470E071-24919
chr3183877466183877626E071-23763
chr3183878299183878502E071-22887
chr3183878552183878971E071-22418
chr3183895571183895795E071-5594
chr3183855090183855150E072-46239
chr3183855157183855217E072-46172
chr3183855259183855328E072-46061
chr3183871467183871588E072-29801
chr3183875748183875798E072-25591
chr3183878299183878502E072-22887
chr3183878552183878971E072-22418
chr3183891484183891728E072-9661
chr3183895571183895795E072-5594
chr3183903024183903117E0721635
chr3183855090183855150E073-46239
chr3183855157183855217E073-46172
chr3183855259183855328E073-46061
chr3183862631183862779E073-38610
chr3183875748183875798E073-25591
chr3183876190183876283E073-25106
chr3183877466183877626E073-23763
chr3183878299183878502E073-22887
chr3183878552183878971E073-22418
chr3183879208183879338E073-22051
chr3183896296183896416E073-4973
chr3183896426183896584E073-4805
chr3183905682183905751E0734293
chr3183855090183855150E074-46239
chr3183871467183871588E074-29801
chr3183878299183878502E074-22887
chr3183878552183878971E074-22418
chr3183879208183879338E074-22051
chr3183879512183879728E074-21661
chr3183894921183895435E074-5954
chr3183895571183895795E074-5594
chr3183903024183903117E0741635
chr3183905682183905751E0744293
chr3183851442183851531E081-49858
chr3183855090183855150E081-46239
chr3183862631183862779E081-38610
chr3183862865183863978E081-37411
chr3183875748183875798E081-25591
chr3183876190183876283E081-25106
chr3183876331183876470E081-24919
chr3183878299183878502E081-22887
chr3183878552183878971E081-22418
chr3183894921183895435E081-5954
chr3183895571183895795E081-5594
chr3183903024183903117E0811635
chr3183855090183855150E082-46239
chr3183855157183855217E082-46172
chr3183871275183871381E082-30008
chr3183895571183895795E082-5594
chr3183896296183896416E082-4973










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3183851584183853941E067-47448
chr3183872567183875296E067-26093
chr3183891749183893652E067-7737
chr3183903140183904912E0671751
chr3183947039183947669E06745650
chr3183947865183947975E06746476
chr3183947998183948249E06746609
chr3183948535183948632E06747146
chr3183948735183948909E06747346
chr3183851584183853941E068-47448
chr3183872567183875296E068-26093
chr3183891749183893652E068-7737
chr3183903140183904912E0681751
chr3183947039183947669E06845650
chr3183947865183947975E06846476
chr3183947998183948249E06846609
chr3183948535183948632E06847146
chr3183948735183948909E06847346
chr3183851584183853941E069-47448
chr3183872567183875296E069-26093
chr3183891749183893652E069-7737
chr3183903140183904912E0691751
chr3183947039183947669E06945650
chr3183947865183947975E06946476
chr3183947998183948249E06946609
chr3183948535183948632E06947146
chr3183948735183948909E06947346
chr3183851584183853941E070-47448
chr3183872567183875296E070-26093
chr3183891749183893652E070-7737
chr3183903140183904912E0701751
chr3183851584183853941E071-47448
chr3183872567183875296E071-26093
chr3183891749183893652E071-7737
chr3183903140183904912E0711751
chr3183948535183948632E07147146
chr3183948735183948909E07147346
chr3183851584183853941E072-47448
chr3183872567183875296E072-26093
chr3183891749183893652E072-7737
chr3183903140183904912E0721751
chr3183947039183947669E07245650
chr3183947865183947975E07246476
chr3183947998183948249E07246609
chr3183851584183853941E073-47448
chr3183872567183875296E073-26093
chr3183891749183893652E073-7737
chr3183903140183904912E0731751
chr3183947039183947669E07345650
chr3183947865183947975E07346476
chr3183947998183948249E07346609
chr3183948535183948632E07347146
chr3183948735183948909E07347346
chr3183851584183853941E074-47448
chr3183872567183875296E074-26093
chr3183891749183893652E074-7737
chr3183903140183904912E0741751
chr3183947039183947669E07445650
chr3183851584183853941E081-47448
chr3183872567183875296E081-26093
chr3183851584183853941E082-47448
chr3183872567183875296E082-26093
chr3183891749183893652E082-7737
chr3183903140183904912E0821751
chr3183947039183947669E08245650
chr3183947865183947975E08246476
chr3183947998183948249E08246609