rs6921058

Homo sapiens
G>T
EYS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0493 (14744/29892,GnomAD)
G==0430 (12527/29118,TOPMED)
G==0441 (2211/5008,1000G)
T=0410 (1580/3854,ALSPAC)
T=0422 (1565/3708,TWINSUK)
chr6:63814258 (GRCh38.p7) (6q12)
AD
GWASdb2
1   publication(s)
See rs on genome
16 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.63814258G>T
GRCh37.p13 chr 6NC_000006.11:g.64524151G>T
EYS RefSeqGeneNG_023443.2:g.1897968C>A

Gene: EYS, eyes shut homolog (Drosophila)(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EYS transcript variant 1NM_001142800.1:c.N/AIntron Variant
EYS transcript variant 4NM_001292009.1:c.N/AIntron Variant
EYS transcript variant 2NM_001142801.1:c.N/AGenic Downstream Transcript Variant
EYS transcript variant 3NM_198283.1:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.234T=0.766
1000GenomesAmericanSub694G=0.410T=0.590
1000GenomesEast AsianSub1008G=0.542T=0.458
1000GenomesEuropeSub1006G=0.608T=0.392
1000GenomesGlobalStudy-wide5008G=0.441T=0.559
1000GenomesSouth AsianSub978G=0.470T=0.530
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.590T=0.410
The Genome Aggregation DatabaseAfricanSub8702G=0.264T=0.736
The Genome Aggregation DatabaseAmericanSub838G=0.430T=0.570
The Genome Aggregation DatabaseEast AsianSub1612G=0.550T=0.450
The Genome Aggregation DatabaseEuropeSub18438G=0.621T=0.378
The Genome Aggregation DatabaseGlobalStudy-wide29892G=0.506T=0.493
The Genome Aggregation DatabaseOtherSub302G=0.500T=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.430T=0.569
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.578T=0.422
PMID Title Author Journal
22096494A novel, functional and replicable risk gene region for alcohol dependence identified by genome-wide association study.Zuo LPLoS One

P-Value

SNP ID p-value Traits Study
rs69210580.0008alcohol dependence22096494

eQTL of rs6921058 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr6:64524151LGSNENSG00000146166.12G>T1.9599e-12494269Brain_Spinal_cord_cervical

meQTL of rs6921058 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 )
chr66451417264514807E069-9344
chr66451556764516749E069-7402
chr66452665164527912E0692500
chr66451417264514807E071-9344
chr66451486564515035E071-9116
chr66451556764516749E071-7402
chr66452665164527912E0712500
chr66451417264514807E074-9344
chr66451486564515035E074-9116
chr66451515164515307E074-8844
chr66451537564515486E074-8665
chr66452342764523521E081-630
chr66452359164523774E081-377
chr66452422964524292E08178
chr66452444864524625E081297
chr66452665164527912E0812500