rs838621

Homo sapiens
C>T
SLC9A9 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0286 (8588/29942,GnomAD)
C==0267 (7779/29118,TOPMED)
C==0348 (1745/5008,1000G)
C==0335 (1291/3854,ALSPAC)
C==0339 (1257/3708,TWINSUK)
chr3:143469211 (GRCh38.p7) (3q24)
AD
GWASdb2
1   publication(s)
See rs on genome
18 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.143469211C>T
GRCh37.p13 chr 3NC_000003.11:g.143188053C>T
SLC9A9 RefSeqGeneNG_017077.1:g.384321G>A

Gene: SLC9A9, solute carrier family 9 member A9(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SLC9A9 transcriptNM_173653.3:c.N/AIntron Variant
SLC9A9 transcript variant X3XM_011512703.2:c.N/AIntron Variant
SLC9A9 transcript variant X1XM_017006202.1:c.N/AIntron Variant
SLC9A9 transcript variant X2XM_017006203.1:c.N/AIntron Variant
SLC9A9 transcript variant X4XM_011512704.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.151T=0.849
1000GenomesAmericanSub694C=0.390T=0.610
1000GenomesEast AsianSub1008C=0.501T=0.499
1000GenomesEuropeSub1006C=0.338T=0.662
1000GenomesGlobalStudy-wide5008C=0.348T=0.652
1000GenomesSouth AsianSub978C=0.440T=0.560
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.335T=0.665
The Genome Aggregation DatabaseAfricanSub8720C=0.166T=0.834
The Genome Aggregation DatabaseAmericanSub836C=0.450T=0.550
The Genome Aggregation DatabaseEast AsianSub1612C=0.504T=0.496
The Genome Aggregation DatabaseEuropeSub18472C=0.316T=0.683
The Genome Aggregation DatabaseGlobalStudy-wide29942C=0.286T=0.713
The Genome Aggregation DatabaseOtherSub302C=0.390T=0.610
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.267T=0.732
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.339T=0.661
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
rs8386210.000464alcohol dependence20201924

eQTL of rs838621 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 rs838621 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 )
chr3143220226143220980E06732173
chr3143138557143138680E069-49373
chr3143220226143220980E06932173
chr3143226677143226849E06938624
chr3143226971143227360E06938918
chr3143220226143220980E07032173
chr3143138557143138680E071-49373
chr3143163427143163568E071-24485
chr3143169923143169973E071-18080
chr3143220226143220980E07132173
chr3143221014143221175E07132961
chr3143226677143226849E07138624
chr3143138557143138680E072-49373
chr3143220226143220980E07232173
chr3143138557143138680E073-49373
chr3143138557143138680E074-49373
chr3143169923143169973E074-18080
chr3143220226143220980E07432173