rs6777018

Homo sapiens
A>G
EGFEM1P : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0172 (5151/29924,GnomAD)
G=0210 (6122/29118,TOPMED)
G=0206 (1032/5008,1000G)
G=0120 (462/3854,ALSPAC)
G=0116 (430/3708,TWINSUK)
chr3:168448398 (GRCh38.p7) (3q26.2)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.168448398A>G
GRCh37.p13 chr 3NC_000003.11:g.168166186A>G

Gene: EGFEM1P, EGF like and EMI domain containing 1, pseudogene(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EGFEM1P transcriptNR_021485.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.700G=0.300
1000GenomesAmericanSub694A=0.650G=0.350
1000GenomesEast AsianSub1008A=0.795G=0.205
1000GenomesEuropeSub1006A=0.891G=0.109
1000GenomesGlobalStudy-wide5008A=0.794G=0.206
1000GenomesSouth AsianSub978A=0.920G=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.880G=0.120
The Genome Aggregation DatabaseAfricanSub8702A=0.724G=0.276
The Genome Aggregation DatabaseAmericanSub838A=0.640G=0.360
The Genome Aggregation DatabaseEast AsianSub1610A=0.781G=0.219
The Genome Aggregation DatabaseEuropeSub18472A=0.888G=0.112
The Genome Aggregation DatabaseGlobalStudy-wide29924A=0.827G=0.172
The Genome Aggregation DatabaseOtherSub302A=0.910G=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.789G=0.210
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.884G=0.116
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs67770180.000478alcohol consumption (maxi-drinks)24277619

eQTL of rs6777018 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 rs6777018 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 )
chr3168177200168177444E07111014
chr3168203424168203489E08137238
chr3168205942168206074E08139756
chr3168207035168207461E08140849
chr3168207554168207610E08141368
chr3168207766168207858E08141580
chr3168207035168207461E08240849
chr3168207554168207610E08241368
chr3168207766168207858E08241580