rs10125067

Homo sapiens
A>G
AKAP2 : 3 Prime UTR Variant
PALM2-AKAP2 : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0037 (1115/29992,GnomAD)
G=0057 (1677/29118,TOPMED)
G=0038 (188/5008,1000G)
chr9:110171501 (GRCh38.p7) (9q31.3)
AD
GWASdb2
1   publication(s)
See rs on genome
170 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.110171501A>G
GRCh37.p13 chr 9NC_000009.11:g.112933781A>G
AKAP2 RefSeqGeneNG_028265.1:g.127904A>G

Gene: PALM2-AKAP2, PALM2-AKAP2 readthrough(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PALM2-AKAP2 transcript variant 2NM_147150.2:c.N/A3 Prime UTR Variant
PALM2-AKAP2 transcript variant 1NM_007203.4:c.N/A3 Prime UTR Variant

Gene: AKAP2, A-kinase anchoring protein 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
AKAP2 transcript variant 2NM_001136562.2:c.N/A3 Prime UTR Variant
AKAP2 transcript variant 1NM_001004065.4:c.N/A3 Prime UTR Variant
AKAP2 transcript variant 3NM_001198656.1:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.867G=0.133
1000GenomesAmericanSub694A=0.980G=0.020
1000GenomesEast AsianSub1008A=1.000G=0.000
1000GenomesEuropeSub1006A=1.000G=0.000
1000GenomesGlobalStudy-wide5008A=0.962G=0.038
1000GenomesSouth AsianSub978A=1.000G=0.000
The Genome Aggregation DatabaseAfricanSub8726A=0.874G=0.126
The Genome Aggregation DatabaseAmericanSub838A=0.990G=0.010
The Genome Aggregation DatabaseEast AsianSub1620A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18506A=0.999G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29992A=0.962G=0.037
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.942G=0.057
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
rs101250670.000899alcohol dependence20201924

eQTL of rs10125067 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 rs10125067 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 )
chr9112900840112900935E067-32846
chr9112903444112904241E067-29540
chr9112909828112910143E067-23638
chr9112910319112910397E067-23384
chr9112918611112919674E067-14107
chr9112919677112919799E067-13982
chr9112919904112919961E067-13820
chr9112920177112921078E067-12703
chr9112934409112934453E067628
chr9112935716112935888E0671935
chr9112949711112949870E06715930
chr9112950015112950086E06716234
chr9112950194112950317E06716413
chr9112950469112950519E06716688
chr9112950604112950815E06716823
chr9112950840112950995E06717059
chr9112951118112952109E06717337
chr9112900333112900408E068-33373
chr9112900576112900635E068-33146
chr9112900641112900714E068-33067
chr9112900840112900935E068-32846
chr9112908497112908991E068-24790
chr9112908992112909079E068-24702
chr9112909828112910143E068-23638
chr9112910319112910397E068-23384
chr9112914556112915683E068-18098
chr9112918611112919674E068-14107
chr9112920004112920128E068-13653
chr9112920177112921078E068-12703
chr9112930515112930619E068-3162
chr9112930696112930753E068-3028
chr9112930891112931156E068-2625
chr9112886487112887274E069-46507
chr9112900840112900935E069-32846
chr9112904768112904848E069-28933
chr9112904896112904977E069-28804
chr9112905001112905145E069-28636
chr9112905172112905491E069-28290
chr9112905514112905758E069-28023
chr9112905759112906659E069-27122
chr9112906774112906844E069-26937
chr9112909828112910143E069-23638
chr9112910319112910397E069-23384
chr9112914556112915683E069-18098
chr9112918611112919674E069-14107
chr9112919677112919799E069-13982
chr9112919904112919961E069-13820
chr9112920004112920128E069-13653
chr9112920177112921078E069-12703
chr9112930891112931156E069-2625
chr9112949567112949631E06915786
chr9112949711112949870E06915930
chr9112950015112950086E06916234
chr9112950194112950317E06916413
chr9112950469112950519E06916688
chr9112950604112950815E06916823
chr9112950840112950995E06917059
chr9112951118112952109E06917337
chr9112980399112980449E06946618
chr9112886487112887274E071-46507
chr9112900576112900635E071-33146
chr9112900641112900714E071-33067
chr9112900840112900935E071-32846
chr9112901271112901459E071-32322
chr9112903444112904241E071-29540
chr9112905759112906659E071-27122
chr9112906774112906844E071-26937
chr9112909828112910143E071-23638
chr9112910319112910397E071-23384
chr9112911877112911953E071-21828
chr9112911991112912097E071-21684
chr9112914556112915683E071-18098
chr9112918611112919674E071-14107
chr9112919677112919799E071-13982
chr9112919904112919961E071-13820
chr9112920004112920128E071-13653
chr9112920177112921078E071-12703
chr9112934409112934453E071628
chr9112934521112935167E071740
chr9112948986112949109E07115205
chr9112949567112949631E07115786
chr9112950604112950815E07116823
chr9112950840112950995E07117059
chr9112951118112952109E07117337
chr9112886487112887274E072-46507
chr9112905759112906659E072-27122
chr9112906774112906844E072-26937
chr9112918611112919674E072-14107
chr9112919677112919799E072-13982
chr9112919904112919961E072-13820
chr9112920004112920128E072-13653
chr9112920177112921078E072-12703
chr9112921591112921645E072-12136
chr9112930891112931156E072-2625
chr9112931367112931407E072-2374
chr9112931521112931575E072-2206
chr9112949567112949631E07215786
chr9112949711112949870E07215930
chr9112950015112950086E07216234
chr9112950194112950317E07216413
chr9112951118112952109E07217337
chr9112885164112886468E073-47313
chr9112903444112904241E073-29540
chr9112904768112904848E073-28933
chr9112904896112904977E073-28804
chr9112905001112905145E073-28636
chr9112905172112905491E073-28290
chr9112905514112905758E073-28023
chr9112905759112906659E073-27122
chr9112914003112914181E073-19600
chr9112914441112914504E073-19277
chr9112914556112915683E073-18098
chr9112920177112921078E073-12703
chr9112934032112934309E073251
chr9112934409112934453E073628
chr9112934521112935167E073740
chr9112950604112950815E07316823
chr9112950840112950995E07317059
chr9112951118112952109E07317337
chr9112885164112886468E074-47313
chr9112886487112887274E074-46507
chr9112902976112903028E074-30753
chr9112903444112904241E074-29540
chr9112905001112905145E074-28636
chr9112905172112905491E074-28290
chr9112905514112905758E074-28023
chr9112905759112906659E074-27122
chr9112909828112910143E074-23638
chr9112910319112910397E074-23384
chr9112918611112919674E074-14107
chr9112919677112919799E074-13982
chr9112919904112919961E074-13820
chr9112920004112920128E074-13653
chr9112920177112921078E074-12703
chr9112934032112934309E074251
chr9112934409112934453E074628
chr9112934521112935167E074740
chr9112949567112949631E07415786
chr9112949711112949870E07415930
chr9112950015112950086E07416234
chr9112950194112950317E07416413
chr9112950469112950519E07416688
chr9112950604112950815E07416823
chr9112950840112950995E07417059
chr9112951118112952109E07417337
chr9112980399112980449E07446618
chr9112919904112919961E081-13820
chr9112920004112920128E081-13653
chr9112920177112921078E081-12703
chr9112932129112932169E081-1612
chr9112932217112932333E081-1448
chr9112932707112933036E081-745
chr9112933081112933137E081-644
chr9112933218112933527E081-254
chr9112933621112933671E081-110
chr9112933812112933901E08131
chr9112934032112934309E081251
chr9112934409112934453E081628
chr9112934521112935167E081740
chr9112935412112935499E0811631
chr9112935571112935621E0811790
chr9112935716112935888E0811935
chr9112936287112936384E0812506
chr9112946698112946906E08112917
chr9112947067112947123E08113286
chr9112920177112921078E082-12703
chr9112932707112933036E082-745
chr9112933081112933137E082-644
chr9112933218112933527E082-254
chr9112933621112933671E082-110