rs1556562

Homo sapiens
G>T
EVI5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0148 (4439/29852,GnomAD)
G==0131 (3831/29118,TOPMED)
G==0080 (401/5008,1000G)
G==0209 (805/3854,ALSPAC)
G==0207 (766/3708,TWINSUK)
chr1:92568466 (GRCh38.p7) (1p22.1)
AD
GWASdb2
2   publication(s)
See rs on genome
4 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.92568466G>T
GRCh37.p13 chr 1NC_000001.10:g.93034023G>T

Gene: EVI5, ecotropic viral integration site 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
EVI5 transcript variant 1NM_001308248.1:c.N/AIntron Variant
EVI5 transcript variant 2NM_005665.5:c.N/AIntron Variant
EVI5 transcript variant X1XM_017002269.1:c.N/AIntron Variant
EVI5 transcript variant X2XM_017002270.1:c.N/AIntron Variant
EVI5 transcript variant X3XM_017002271.1:c.N/AIntron Variant
EVI5 transcript variant X4XM_017002272.1:c.N/AIntron Variant
EVI5 transcript variant X5XM_017002273.1:c.N/AIntron Variant
EVI5 transcript variant X6XM_017002274.1:c.N/AIntron Variant
EVI5 transcript variant X7XM_017002275.1:c.N/AIntron Variant
EVI5 transcript variant X8XM_017002276.1:c.N/AIntron Variant
EVI5 transcript variant X10XM_017002277.1:c.N/AIntron Variant
EVI5 transcript variant X11XM_017002278.1:c.N/AIntron Variant
EVI5 transcript variant X12XM_017002279.1:c.N/AIntron Variant
EVI5 transcript variant X12XM_017002280.1:c.N/AIntron Variant
EVI5 transcript variant X13XM_017002281.1:c.N/AIntron Variant
EVI5 transcript variant X16XM_017002282.1:c.N/AIntron Variant
EVI5 transcript variant X17XM_017002283.1:c.N/AIntron Variant
EVI5 transcript variant X16XM_017002284.1:c.N/AIntron Variant
EVI5 transcript variant X17XM_017002285.1:c.N/AIntron Variant
EVI5 transcript variant X18XM_017002286.1:c.N/AIntron Variant
EVI5 transcript variant X19XM_017002287.1:c.N/AIntron Variant
EVI5 transcript variant X21XM_017002288.1:c.N/AIntron Variant
EVI5 transcript variant X22XR_001737401.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.051T=0.949
1000GenomesAmericanSub694G=0.110T=0.890
1000GenomesEast AsianSub1008G=0.025T=0.975
1000GenomesEuropeSub1006G=0.193T=0.807
1000GenomesGlobalStudy-wide5008G=0.080T=0.920
1000GenomesSouth AsianSub978G=0.040T=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.209T=0.791
The Genome Aggregation DatabaseAfricanSub8698G=0.075T=0.925
The Genome Aggregation DatabaseAmericanSub836G=0.090T=0.910
The Genome Aggregation DatabaseEast AsianSub1618G=0.035T=0.965
The Genome Aggregation DatabaseEuropeSub18398G=0.197T=0.802
The Genome Aggregation DatabaseGlobalStudy-wide29852G=0.148T=0.851
The Genome Aggregation DatabaseOtherSub302G=0.090T=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.131T=0.868
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.207T=0.793
PMID Title Author Journal
20087403Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis.Alcina AEur J Hum Genet
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs15565624.78E-05alcohol consumption23953852

eQTL of rs1556562 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:93034023EVI5ENSG00000067208.10G>T3.7726e-3-223938Hippocampus

meQTL of rs1556562 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 )
chr19304293393043029E0698910
chr19304316693043387E0699143
chr19301725693017506E071-16517
chr19301725693017506E082-16517