rs13288277

Homo sapiens
A>G
ASTN2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0014 (445/29910,GnomAD)
G=0013 (387/29118,TOPMED)
G=0008 (42/5008,1000G)
G=0028 (109/3854,ALSPAC)
G=0026 (98/3708,TWINSUK)
chr9:116947149 (GRCh38.p7) (9q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.116947149A>G
GRCh37.p13 chr 9NC_000009.11:g.119709428A>G
ASTN2 RefSeqGeneNG_021409.1:g.472890T>C

Gene: ASTN2, astrotactin 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
ASTN2 transcript variant 1NM_014010.4:c.N/AIntron Variant
ASTN2 transcript variant 5NM_001184734.1:c.N/AGenic Upstream Transcript Variant
ASTN2 transcript variant 6NM_001184735.1:c.N/AGenic Upstream Transcript Variant
ASTN2 transcript variant 2NM_198186.3:c.N/AGenic Upstream Transcript Variant
ASTN2 transcript variant 3NM_198187.3:c.N/AGenic Upstream Transcript Variant
ASTN2 transcript variant 4NM_198188.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=1.000G=0.000
1000GenomesAmericanSub694A=0.990G=0.010
1000GenomesEast AsianSub1008A=1.000G=0.000
1000GenomesEuropeSub1006A=0.968G=0.032
1000GenomesGlobalStudy-wide5008A=0.992G=0.008
1000GenomesSouth AsianSub978A=1.000G=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.972G=0.028
The Genome Aggregation DatabaseAfricanSub8688A=0.995G=0.005
The Genome Aggregation DatabaseAmericanSub838A=0.980G=0.020
The Genome Aggregation DatabaseEast AsianSub1610A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18472A=0.979G=0.020
The Genome Aggregation DatabaseGlobalStudy-wide29910A=0.985G=0.014
The Genome Aggregation DatabaseOtherSub302A=0.980G=0.020
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.986G=0.013
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.974G=0.026
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
rs132882770.00075alcohol dependence20201924

eQTL of rs13288277 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 rs13288277 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 )
chr9119667996119668046E067-41382
chr9119716603119716857E0677175
chr9119747866119748077E06738438
chr9119748095119748176E06738667
chr9119748231119748291E06738803
chr9119748383119748614E06738955
chr9119748721119748790E06739293
chr9119749226119749490E06739798
chr9119749513119749862E06740085
chr9119666530119666673E068-42755
chr9119715823119715877E0686395
chr9119715926119716004E0686498
chr9119749226119749490E06839798
chr9119666530119666673E069-42755
chr9119715558119715608E0696130
chr9119667308119667896E070-41532
chr9119667996119668046E070-41382
chr9119745655119745710E07036227
chr9119709551119709911E071123
chr9119666530119666673E072-42755
chr9119667308119667896E072-41532
chr9119667308119667896E073-41532
chr9119723123119723218E07313695
chr9119659511119660251E081-49177
chr9119667308119667896E081-41532
chr9119667996119668046E081-41382
chr9119674267119674621E081-34807
chr9119675330119675389E081-34039
chr9119659511119660251E082-49177









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr9119721959119722563E06812531
chr9119721959119722563E06912531
chr9119721959119722563E07012531
chr9119721959119722563E07212531
chr9119721959119722563E07412531
chr9119721959119722563E08212531