rs3003672

Homo sapiens
A>C
EYS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0086 (2584/29968,GnomAD)
C=0122 (3580/29118,TOPMED)
C=0104 (519/5008,1000G)
C=0004 (16/3854,ALSPAC)
C=0002 (7/3708,TWINSUK)
chr6:64121227 (GRCh38.p7) (6q12)
AD
GWASdb2
2   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.64121227A>C
GRCh37.p13 chr 6NC_000006.11:g.64831120A>C
EYS RefSeqGeneNG_023443.2:g.1590999T>G

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
1000GenomesAfricanSub1322A=0.721C=0.279
1000GenomesAmericanSub694A=0.950C=0.050
1000GenomesEast AsianSub1008A=0.915C=0.085
1000GenomesEuropeSub1006A=0.990C=0.010
1000GenomesGlobalStudy-wide5008A=0.896C=0.104
1000GenomesSouth AsianSub978A=0.980C=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.996C=0.004
The Genome Aggregation DatabaseAfricanSub8712A=0.744C=0.256
The Genome Aggregation DatabaseAmericanSub836A=0.960C=0.040
The Genome Aggregation DatabaseEast AsianSub1620A=0.930C=0.070
The Genome Aggregation DatabaseEuropeSub18498A=0.988C=0.011
The Genome Aggregation DatabaseGlobalStudy-wide29968A=0.913C=0.086
The Genome Aggregation DatabaseOtherSub302A=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.877C=0.122
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.998C=0.002
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
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
rs30036720.00055alcohol dependence20201924

eQTL of rs3003672 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 rs3003672 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.