rs11697967

Homo sapiens
A>C / A>G
EFCAB8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0265 (7930/29916,GnomAD)
C=0263 (1318/5008,1000G)
chr20:32923896 (GRCh38.p7) (20q11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
33 Enhancers around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.32923896A>C
GRCh38.p7 chr 20NC_000020.11:g.32923896A>G
GRCh37.p13 chr 20NC_000020.10:g.31511702A>C
GRCh37.p13 chr 20NC_000020.10:g.31511702A>G

Gene: EFCAB8, uncharacterized EFCAB8(plus strand)

Molecule type Change Amino acid[Codon] SO Term
EFCAB8 transcript variant X1XM_011529121.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.858C=0.142
1000GenomesAmericanSub694A=0.680C=0.320
1000GenomesEast AsianSub1008A=0.835C=0.165
1000GenomesEuropeSub1006A=0.642C=0.358
1000GenomesGlobalStudy-wide5008A=0.737C=0.263
1000GenomesSouth AsianSub978A=0.610C=0.390
The Genome Aggregation DatabaseAfricanSub8708A=0.831C=0.169
The Genome Aggregation DatabaseAmericanSub836A=0.640C=0.36,
The Genome Aggregation DatabaseEast AsianSub1618A=0.857C=0.143
The Genome Aggregation DatabaseEuropeSub18452A=0.684C=0.315
The Genome Aggregation DatabaseGlobalStudy-wide29916A=0.734C=0.265
The Genome Aggregation DatabaseOtherSub302A=0.650C=0.35,
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs116979670.00068alcohol dependence21314694

eQTL of rs11697967 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 rs11697967 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 )
chr2078241927824594E067-30390
chr2078923257892512E06737341
chr2078927577892874E06737773
chr2078929827893109E06737998
chr2078933237893512E06738339
chr2078241927824594E068-30390
chr2078923257892512E06837341
chr2078927577892874E06837773
chr2078929827893109E06837998
chr2078241927824594E069-30390
chr2078923257892512E06937341
chr2078927577892874E06937773
chr2078929827893109E06937998
chr2078241927824594E071-30390
chr2078248327825098E071-29886
chr2078251357825185E071-29799
chr2078394677839535E071-15449
chr2078396147840263E071-14721
chr2078639247864773E0718940
chr2078923257892512E07137341
chr2078927577892874E07137773
chr2078241927824594E072-30390
chr2078248327825098E072-29886
chr2078251357825185E072-29799
chr2078396147840263E072-14721
chr2078923257892512E07237341
chr2078927577892874E07237773
chr2078929827893109E07237998
chr2078241927824594E074-30390
chr2078639247864773E0748940
chr2078923257892512E07437341
chr2078927577892874E07437773
chr2078929827893109E07437998






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2078469237847362E068-7622
chr2078469237847362E069-7622
chr2078469237847362E072-7622