rs12536529

Homo sapiens
A>G
AKAP9 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0391 (11687/29868,GnomAD)
G=0419 (12217/29118,TOPMED)
G=0362 (1815/5008,1000G)
G=0392 (1511/3854,ALSPAC)
G=0378 (1401/3708,TWINSUK)
chr7:92054772 (GRCh38.p7) (7q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.92054772A>G
GRCh37.p13 chr 7NC_000007.13:g.91684086A>G
AKAP9 RefSeqGene LRG_331

Gene: AKAP9, A-kinase anchoring protein 9(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AKAP9 transcript variant 2NM_005751.4:c.N/AIntron Variant
AKAP9 transcript variant 3NM_147185.2:c.N/AIntron Variant
AKAP9 transcript variant X1XM_017011642.1:c.N/AIntron Variant
AKAP9 transcript variant X2XM_017011643.1:c.N/AIntron Variant
AKAP9 transcript variant X3XM_017011644.1:c.N/AIntron Variant
AKAP9 transcript variant X4XM_017011645.1:c.N/AIntron Variant
AKAP9 transcript variant X5XM_017011646.1:c.N/AIntron Variant
AKAP9 transcript variant X6XM_017011647.1:c.N/AIntron Variant
AKAP9 transcript variant X7XM_017011648.1:c.N/AIntron Variant
AKAP9 transcript variant X8XM_017011649.1:c.N/AIntron Variant
AKAP9 transcript variant X9XM_017011650.1:c.N/AIntron Variant
AKAP9 transcript variant X10XM_017011651.1:c.N/AIntron Variant
AKAP9 transcript variant X11XM_017011652.1:c.N/AIntron Variant
AKAP9 transcript variant X12XM_017011653.1:c.N/AIntron Variant
AKAP9 transcript variant X13XM_017011654.1:c.N/AIntron Variant
AKAP9 transcript variant X14XM_017011655.1:c.N/AIntron Variant
AKAP9 transcript variant X15XM_017011656.1:c.N/AIntron Variant
AKAP9 transcript variant X16XM_017011657.1:c.N/AIntron Variant
AKAP9 transcript variant X17XM_017011658.1:c.N/AGenic Upstream Transcript Variant
AKAP9 transcript variant X18XM_017011659.1:c.N/AGenic Upstream Transcript Variant
AKAP9 transcript variant X19XM_017011660.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.535G=0.465
1000GenomesAmericanSub694A=0.640G=0.360
1000GenomesEast AsianSub1008A=0.837G=0.163
1000GenomesEuropeSub1006A=0.614G=0.386
1000GenomesGlobalStudy-wide5008A=0.638G=0.362
1000GenomesSouth AsianSub978A=0.590G=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.608G=0.392
The Genome Aggregation DatabaseAfricanSub8704A=0.536G=0.464
The Genome Aggregation DatabaseAmericanSub832A=0.680G=0.320
The Genome Aggregation DatabaseEast AsianSub1610A=0.825G=0.175
The Genome Aggregation DatabaseEuropeSub18420A=0.623G=0.376
The Genome Aggregation DatabaseGlobalStudy-wide29868A=0.608G=0.391
The Genome Aggregation DatabaseOtherSub302A=0.470G=0.530
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.580G=0.419
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.622G=0.378
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs125365290.000154alcohol dependence21314694

eQTL of rs12536529 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:91684086AKAP9ENSG00000127914.12A>G4.3498e-3113905Cerebellum

meQTL of rs12536529 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 )
chr79168664991687113E0682563
chr79168748591687627E0683399
chr79169054891690754E0686462