rs625822

Homo sapiens
C>T
EPHA7 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0167 (4994/29904,GnomAD)
C==0153 (4475/29118,TOPMED)
C==0150 (749/5008,1000G)
C==0244 (941/3854,ALSPAC)
C==0248 (921/3708,TWINSUK)
chr6:93403084 (GRCh38.p7) (6q16.1)
AD
GWASdb2
1   publication(s)
See rs on genome
18 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.93403084C>T
GRCh37.p13 chr 6NC_000006.11:g.94112802C>T
EPHA7 RefSeqGeneNG_033944.1:g.21499G>A

Gene: EPHA7, EPH receptor A7(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EPHA7 transcript variant 2NM_001288629.1:c.N/AIntron Variant
EPHA7 transcript variant 1NM_004440.3:c.N/AIntron Variant
EPHA7 transcript variant 3NM_001288630.1:c.N/AGenic Downstream Transcript Variant
EPHA7 transcript variant X1XM_005248669.2:c.N/AIntron Variant
EPHA7 transcript variant X3XM_005248671.2:c.N/AIntron Variant
EPHA7 transcript variant X2XM_017010365.1:c.N/AIntron Variant
EPHA7 transcript variant X5XM_017010366.1:c.N/AIntron Variant
EPHA7 transcript variant X4XR_001743218.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.017T=0.983
1000GenomesAmericanSub694C=0.230T=0.770
1000GenomesEast AsianSub1008C=0.099T=0.901
1000GenomesEuropeSub1006C=0.272T=0.728
1000GenomesGlobalStudy-wide5008C=0.150T=0.850
1000GenomesSouth AsianSub978C=0.200T=0.800
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.244T=0.756
The Genome Aggregation DatabaseAfricanSub8730C=0.050T=0.950
The Genome Aggregation DatabaseAmericanSub836C=0.200T=0.800
The Genome Aggregation DatabaseEast AsianSub1598C=0.086T=0.914
The Genome Aggregation DatabaseEuropeSub18438C=0.225T=0.774
The Genome Aggregation DatabaseGlobalStudy-wide29904C=0.167T=0.833
The Genome Aggregation DatabaseOtherSub302C=0.310T=0.690
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.153T=0.846
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.248T=0.752
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
rs6258220.000075alcoholismpha002892
rs6258220.000075alcohol dependence20201924
rs6258220.00048Alcohol dependence (early age of onset)20201924

eQTL of rs625822 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 rs625822 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 )
chr69410839894108633E068-4169
chr69410864094108727E068-4075
chr69410872994108823E068-3979
chr69410888694108936E068-3866
chr69411704694117203E0684244
chr69410216794102226E073-10576
chr69410117494101279E081-11523
chr69410216794102226E081-10576
chr69410864094108727E081-4075
chr69410872994108823E081-3979
chr69410888694108936E081-3866
chr69410937294109553E081-3249
chr69412003194120122E0817229
chr69410839894108633E082-4169
chr69410864094108727E082-4075
chr69410872994108823E082-3979
chr69410975794109807E082-2995
chr69411005694110106E082-2696




Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr69412608294127775E06713280
chr69412781694130499E06715014
chr69412572194126042E06812919
chr69412608294127775E06813280
chr69412781694130499E06815014
chr69412608294127775E06913280
chr69412781694130499E06915014
chr69412608294127775E07013280
chr69412781694130499E07015014
chr69412608294127775E07113280
chr69412781694130499E07115014
chr69412608294127775E07213280
chr69412781694130499E07215014
chr69412608294127775E07313280
chr69412781694130499E07315014
chr69412572194126042E07412919
chr69412608294127775E07413280
chr69412781694130499E07415014
chr69412572194126042E08112919
chr69412608294127775E08113280
chr69412781694130499E08115014
chr69413055794130661E08117755
chr69411880994118859E0826007
chr69411896994119058E0826167
chr69412355794123652E08210755
chr69412572194126042E08212919
chr69412608294127775E08213280
chr69412781694130499E08215014
chr69413055794130661E08217755