rs16977810

Homo sapiens
C>A / C>G
AKAP13 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0174 (5220/29902,GnomAD)
A=0211 (6169/29118,TOPMED)
A=0221 (1107/5008,1000G)
A=0119 (457/3854,ALSPAC)
A=0114 (424/3708,TWINSUK)
chr15:85395420 (GRCh38.p7) (15q25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.85395420C>A
GRCh38.p7 chr 15NC_000015.10:g.85395420C>G
GRCh37.p13 chr 15NC_000015.9:g.85938651C>A
GRCh37.p13 chr 15NC_000015.9:g.85938651C>G

Gene: AKAP13, A-kinase anchoring protein 13(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AKAP13 transcript variant 1NM_006738.5:c.N/AIntron Variant
AKAP13 transcript variant 2NM_007200.4:c.N/AIntron Variant
AKAP13 transcript variant 4NM_001270546.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.676A=0.324
1000GenomesAmericanSub694C=0.660A=0.340
1000GenomesEast AsianSub1008C=0.793A=0.207
1000GenomesEuropeSub1006C=0.885A=0.115
1000GenomesGlobalStudy-wide5008C=0.779A=0.221
1000GenomesSouth AsianSub978C=0.880A=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.881A=0.119
The Genome Aggregation DatabaseAfricanSub8706C=0.710G=0.000
The Genome Aggregation DatabaseAmericanSub836C=0.620G=0.00,
The Genome Aggregation DatabaseEast AsianSub1610C=0.794G=0.004
The Genome Aggregation DatabaseEuropeSub18448C=0.890G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29902C=0.825G=0.000
The Genome Aggregation DatabaseOtherSub302C=0.880G=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.788A=0.211
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.886A=0.114
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
rs169778100.000854alcohol dependence20201924

eQTL of rs16977810 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 rs16977810 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.