rs1408916

Homo sapiens
G>A / G>C
EVI5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0148 (4444/29914,GnomAD)
G==0133 (3889/29118,TOPMED)
G==0080 (401/5008,1000G)
G==0209 (805/3854,ALSPAC)
G==0206 (762/3708,TWINSUK)
chr1:92527070 (GRCh38.p7) (1p22.1)
AD
GWASdb2
1   publication(s)
See rs on genome
1 Enhancer around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.92527070G>A
GRCh38.p7 chr 1NC_000001.11:g.92527070G>C
GRCh37.p13 chr 1NC_000001.10:g.92992627G>A
GRCh37.p13 chr 1NC_000001.10:g.92992627G>C

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=0.051A=0.949
1000GenomesAmericanSub694G=0.110A=0.890
1000GenomesEast AsianSub1008G=0.025A=0.975
1000GenomesEuropeSub1006G=0.193A=0.807
1000GenomesGlobalStudy-wide5008G=0.080A=0.920
1000GenomesSouth AsianSub978G=0.040A=0.960
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.209A=0.791
The Genome Aggregation DatabaseAfricanSub8712G=0.075A=0.925
The Genome Aggregation DatabaseAmericanSub838G=0.090A=0.910
The Genome Aggregation DatabaseEast AsianSub1620G=0.035A=0.965
The Genome Aggregation DatabaseEuropeSub18442G=0.196A=0.803
The Genome Aggregation DatabaseGlobalStudy-wide29914G=0.148A=0.851
The Genome Aggregation DatabaseOtherSub302G=0.090A=0.910
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.133A=0.866
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.206A=0.794
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs14089165.2E-05alcohol consumption23953852

eQTL of rs1408916 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:92992627EVI5ENSG00000067208.10G>A3.7726e-3-265334Hippocampus

meQTL of rs1408916 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 )
chr1179553076179553189E070-13094

Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1179555187179555994E067-10289
chr1179555187179555994E068-10289
chr1179560610179561210E068-5073
chr1179561345179561526E068-4757
chr1179555187179555994E069-10289
chr1179544596179544720E070-21563
chr1179544739179545058E070-21225
chr1179545099179545388E070-20895
chr1179555187179555994E070-10289
chr1179555187179555994E071-10289
chr1179555187179555994E072-10289
chr1179560610179561210E072-5073
chr1179561345179561526E072-4757
chr1179555187179555994E073-10289
chr1179555187179555994E074-10289
chr1179544739179545058E082-21225
chr1179545099179545388E082-20895
chr1179555187179555994E082-10289
chr1179560610179561210E082-5073
chr1179561345179561526E082-4757