rs1326814

Homo sapiens
C>G / C>T
ASTN2 : Intron Variant
LOC105376238 : Non Coding Transcript Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0426 (12751/29866,GnomAD)
C==0454 (13221/29118,TOPMED)
C==0463 (2317/5008,1000G)
C==0377 (1452/3854,ALSPAC)
C==0374 (1386/3708,TWINSUK)
chr9:116849749 (GRCh38.p7) (9q33.1)
AD
GWASdb2
1   publication(s)
See rs on genome
54 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.116849749C>G
GRCh38.p7 chr 9NC_000009.12:g.116849749C>T
GRCh37.p13 chr 9NC_000009.11:g.119612028C>G
GRCh37.p13 chr 9NC_000009.11:g.119612028C>T
ASTN2 RefSeqGeneNG_021409.1:g.570290G>C
ASTN2 RefSeqGeneNG_021409.1:g.570290G>A

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

Gene: LOC105376238, uncharacterized LOC105376238(plus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105376238 transcriptXR_930275.2:n.208...XR_930275.2:n.2080C>GC>GNon Coding Transcript Variant
LOC105376238 transcriptXR_930275.2:n.208...XR_930275.2:n.2080C>TC>TNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.544T=0.456
1000GenomesAmericanSub694C=0.440T=0.560
1000GenomesEast AsianSub1008C=0.481T=0.519
1000GenomesEuropeSub1006C=0.364T=0.636
1000GenomesGlobalStudy-wide5008C=0.463T=0.537
1000GenomesSouth AsianSub978C=0.450T=0.550
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.377T=0.623
The Genome Aggregation DatabaseAfricanSub8680C=0.507T=0.493
The Genome Aggregation DatabaseAmericanSub838C=0.480T=0.520
The Genome Aggregation DatabaseEast AsianSub1602C=0.468T=0.532
The Genome Aggregation DatabaseEuropeSub18444C=0.385T=0.614
The Genome Aggregation DatabaseGlobalStudy-wide29866C=0.426T=0.573
The Genome Aggregation DatabaseOtherSub302C=0.280T=0.720
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.454T=0.546
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.374T=0.626
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
rs13268140.00019alcohol dependence20201924

eQTL of rs1326814 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 rs1326814 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 )
chr9110904423110905551E067-17467
chr9110915781110915929E067-7089
chr9110949050110950053E06726032
chr9110969666110970473E06746648
chr9110904285110904390E068-18628
chr9110904423110905551E068-17467
chr9110905742110905796E068-17222
chr9110912998110913916E068-9102
chr9110969666110970473E06846648
chr9110904285110904390E069-18628
chr9110904423110905551E069-17467
chr9110948825110949001E06925807
chr9110949050110950053E06926032
chr9110950771110952024E06927753
chr9110904423110905551E070-17467
chr9110948699110948749E07025681
chr9110948825110949001E07025807
chr9110949050110950053E07026032
chr9110969666110970473E07046648
chr9110904423110905551E071-17467
chr9110912998110913916E071-9102
chr9110915781110915929E071-7089
chr9110916136110916412E071-6606
chr9110948825110949001E07125807
chr9110949050110950053E07126032
chr9110950771110952024E07127753
chr9110904423110905551E072-17467
chr9110905742110905796E072-17222
chr9110949050110950053E07226032
chr9110969666110970473E07246648
chr9110904423110905551E073-17467
chr9110969666110970473E07346648
chr9110903482110903536E074-19482
chr9110904103110904168E074-18850
chr9110904285110904390E074-18628
chr9110904423110905551E074-17467
chr9110905742110905796E074-17222
chr9110949050110950053E07426032
chr9110969666110970473E07446648
chr9110879500110880744E081-42274
chr9110880926110880982E081-42036
chr9110881484110881545E081-41473
chr9110904423110905551E081-17467
chr9110920534110920737E081-2281
chr9110920741110921156E081-1862
chr9110921351110921479E081-1539
chr9110879500110880744E082-42274
chr9110880926110880982E082-42036
chr9110899342110899805E082-23213
chr9110899878110899954E082-23064
chr9110900333110900387E082-22631
chr9110900400110900459E082-22559
chr9110904423110905551E082-17467
chr9110911821110911938E082-11080