rs6018185

Homo sapiens
T>C
EYA2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0431 (12901/29882,GnomAD)
T==0437 (12727/29118,TOPMED)
T==0369 (1847/5008,1000G)
T==0413 (1593/3854,ALSPAC)
T==0409 (1518/3708,TWINSUK)
chr20:46928812 (GRCh38.p7) (20q13.12)
AD
GWASdb2
1   publication(s)
See rs on genome
60 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.46928812T>C
GRCh37.p13 chr 20NC_000020.10:g.45557451T>C
EYA2 RefSeqGeneNG_011673.2:g.38943T>C

Gene: EYA2, EYA transcriptional coactivator and phosphatase 2(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EYA2 transcript variant 1NM_005244.4:c.N/AIntron Variant
EYA2 transcript variant 5NM_172110.3:c.N/AIntron Variant
EYA2 transcript variant X2XM_005260327.2:c.N/AIntron Variant
EYA2 transcript variant X1XM_017027721.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.565C=0.435
1000GenomesAmericanSub694T=0.360C=0.640
1000GenomesEast AsianSub1008T=0.172C=0.828
1000GenomesEuropeSub1006T=0.417C=0.583
1000GenomesGlobalStudy-wide5008T=0.369C=0.631
1000GenomesSouth AsianSub978T=0.260C=0.740
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.413C=0.587
The Genome Aggregation DatabaseAfricanSub8698T=0.525C=0.475
The Genome Aggregation DatabaseAmericanSub836T=0.360C=0.640
The Genome Aggregation DatabaseEast AsianSub1616T=0.143C=0.857
The Genome Aggregation DatabaseEuropeSub18430T=0.418C=0.581
The Genome Aggregation DatabaseGlobalStudy-wide29882T=0.431C=0.568
The Genome Aggregation DatabaseOtherSub302T=0.280C=0.720
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.437C=0.562
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.409C=0.591
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
rs60181850.00045alcohol dependence(early age of onset)20201924
rs60181850.0009alcohol dependence20201924

eQTL of rs6018185 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 rs6018185 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 )
chr204555713345557220E067-231
chr204555722945557749E0670
chr204555786245558040E067411
chr204555807045558120E067619
chr204555930945559599E0681858
chr204555967845559835E0682227
chr204556017045560809E0682719
chr204556088345560933E0683432
chr204555686445556928E069-523
chr204555713345557220E069-231
chr204555930945559599E0691858
chr204555967845559835E0692227
chr204557275345572803E06915302
chr204557285245572913E06915401
chr204557313245573182E06915681
chr204560309645603959E07045645
chr204555713345557220E071-231
chr204555722945557749E0710
chr204555786245558040E071411
chr204555807045558120E071619
chr204556017045560809E0712719
chr204559386545593961E07136414
chr204555930945559599E0721858
chr204555967845559835E0722227
chr204556017045560809E0722719
chr204557216745572355E07214716
chr204557235845572412E07214907
chr204557246845572518E07215017
chr204553388745534417E073-23034
chr204555686445556928E073-523
chr204555713345557220E073-231
chr204556017045560809E0732719
chr204556088345560933E0733432
chr204559240445592697E07334953
chr204554350645544075E074-13376
chr204555667345556713E074-738
chr204555686445556928E074-523
chr204555713345557220E074-231
chr204555722945557749E0740
chr204559138345591447E07433932
chr204559163145592125E07434180
chr204559227145592321E07434820
chr204559240445592697E07434953
chr204555713345557220E081-231
chr204555722945557749E0810
chr204555786245558040E081411
chr204555807045558120E081619
chr204555828845558404E081837
chr204555859145558740E0811140
chr204555907345559127E0811622
chr204555930945559599E0811858
chr204555967845559835E0812227
chr204555713345557220E082-231
chr204555722945557749E0820
chr204555786245558040E082411
chr204555807045558120E082619
chr204555828845558404E082837
chr204555859145558740E0821140
chr204555907345559127E0821622
chr204555930945559599E0821858










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr204552363545525025E067-32426
chr204552290045523582E068-33869
chr204552363545525025E068-32426
chr204552363545525025E069-32426
chr204552363545525025E071-32426
chr204552363545525025E072-32426
chr204552363545525025E073-32426
chr204552363545525025E074-32426
chr204552290045523582E082-33869
chr204552363545525025E082-32426