rs1536428

Homo sapiens
A>G
ASTN2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0413 (12382/29914,GnomAD)
A==0444 (12952/29118,TOPMED)
A==0452 (2263/5008,1000G)
A==0362 (1395/3854,ALSPAC)
A==0363 (1345/3708,TWINSUK)
chr9:116853763 (GRCh38.p7) (9q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
43 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.116853763A>G
GRCh37.p13 chr 9NC_000009.11:g.119616042A>G
ASTN2 RefSeqGeneNG_021409.1:g.566276T>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=0.541G=0.459
1000GenomesAmericanSub694A=0.440G=0.560
1000GenomesEast AsianSub1008A=0.470G=0.530
1000GenomesEuropeSub1006A=0.353G=0.647
1000GenomesGlobalStudy-wide5008A=0.452G=0.548
1000GenomesSouth AsianSub978A=0.430G=0.570
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.362G=0.638
The Genome Aggregation DatabaseAfricanSub8696A=0.500G=0.500
The Genome Aggregation DatabaseAmericanSub838A=0.470G=0.530
The Genome Aggregation DatabaseEast AsianSub1612A=0.463G=0.537
The Genome Aggregation DatabaseEuropeSub18466A=0.369G=0.630
The Genome Aggregation DatabaseGlobalStudy-wide29914A=0.413G=0.586
The Genome Aggregation DatabaseOtherSub302A=0.270G=0.730
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.444G=0.555
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.363G=0.637
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
rs15364280.00018alcohol dependence20201924

eQTL of rs1536428 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 rs1536428 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 )
chr9119653469119653627E06737427
chr9119653871119653986E06737829
chr9119653469119653627E06837427
chr9119653871119653986E06837829
chr9119580624119580746E071-35296
chr9119653469119653627E07137427
chr9119606564119606891E072-9151
chr9119606921119607262E072-8780
chr9119583768119583842E074-32200
chr9119584070119584269E074-31773
chr9119606564119606891E074-9151
chr9119653469119653627E07437427
chr9119653871119653986E07437829
chr9119574615119575251E081-40791
chr9119575296119575757E081-40285
chr9119598520119598601E081-17441
chr9119598884119599001E081-17041
chr9119599033119599087E081-16955
chr9119599267119600768E081-15274
chr9119606372119606422E081-9620
chr9119606435119606485E081-9557
chr9119606564119606891E081-9151
chr9119606921119607262E081-8780
chr9119608290119608363E081-7679
chr9119608430119608570E081-7472
chr9119608643119608958E081-7084
chr9119611571119611695E081-4347
chr9119611964119612527E081-3515
chr9119612540119612664E081-3378
chr9119612715119613232E081-2810
chr9119613352119613402E081-2640
chr9119615835119615889E081-153
chr9119659375119659461E08143333
chr9119659511119660251E08143469
chr9119599267119600768E082-15274
chr9119606372119606422E082-9620
chr9119606435119606485E082-9557
chr9119606564119606891E082-9151
chr9119611964119612527E082-3515
chr9119612540119612664E082-3378
chr9119612715119613232E082-2810
chr9119659375119659461E08243333
chr9119659511119660251E08243469