rs6711453

Homo sapiens
A>G
CAB39 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0137 (4125/29986,GnomAD)
G=0180 (5266/29118,TOPMED)
G=0152 (760/5008,1000G)
G=0074 (285/3854,ALSPAC)
G=0084 (313/3708,TWINSUK)
chr2:230729374 (GRCh38.p7) (2q37.1)
AD
GWASdb2
1   publication(s)
See rs on genome
84 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.230729374A>G
GRCh37.p13 chr 2NC_000002.11:g.231594089A>G

Gene: CAB39, calcium binding protein 39(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CAB39 transcript variant 2NM_001130849.1:c.N/AIntron Variant
CAB39 transcript variant 3NM_001130850.1:c.N/AIntron Variant
CAB39 transcript variant 1NM_016289.3:c.N/AIntron Variant
CAB39 transcript variant X1XM_011511350.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.631G=0.369
1000GenomesAmericanSub694A=0.920G=0.080
1000GenomesEast AsianSub1008A=0.933G=0.067
1000GenomesEuropeSub1006A=0.920G=0.080
1000GenomesGlobalStudy-wide5008A=0.848G=0.152
1000GenomesSouth AsianSub978A=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.926G=0.074
The Genome Aggregation DatabaseAfricanSub8720A=0.704G=0.296
The Genome Aggregation DatabaseAmericanSub838A=0.930G=0.070
The Genome Aggregation DatabaseEast AsianSub1622A=0.974G=0.026
The Genome Aggregation DatabaseEuropeSub18504A=0.924G=0.076
The Genome Aggregation DatabaseGlobalStudy-wide29986A=0.862G=0.137
The Genome Aggregation DatabaseOtherSub302A=0.880G=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.819G=0.180
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.916G=0.084
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
rs67114530.0003alcohol dependence(early age of onset)20201924
rs67114530.00037alcohol dependence20201924

eQTL of rs6711453 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 rs6711453 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 )
chr2231580545231580595E067-13494
chr2231582211231582261E067-11828
chr2231582286231582469E067-11620
chr2231582481231582658E067-11431
chr2231582802231583082E067-11007
chr2231584571231584661E067-9428
chr2231584774231584855E067-9234
chr2231602916231603530E0678827
chr2231623947231624121E06729858
chr2231580545231580595E068-13494
chr2231582211231582261E068-11828
chr2231582286231582469E068-11620
chr2231582481231582658E068-11431
chr2231600670231600765E0686581
chr2231602195231602249E0688106
chr2231602514231602906E0688425
chr2231602916231603530E0688827
chr2231615732231616286E06821643
chr2231623947231624121E06829858
chr2231624214231624407E06830125
chr2231642969231643107E06848880
chr2231643430231643580E06849341
chr2231555331231555518E069-38571
chr2231580545231580595E069-13494
chr2231582286231582469E069-11620
chr2231582481231582658E069-11431
chr2231582802231583082E069-11007
chr2231602916231603530E0698827
chr2231615732231616286E06921643
chr2231623345231623504E06929256
chr2231623512231623891E06929423
chr2231623947231624121E06929858
chr2231624214231624407E06930125
chr2231580545231580595E070-13494
chr2231623947231624121E07029858
chr2231580805231580875E071-13214
chr2231582211231582261E071-11828
chr2231582286231582469E071-11620
chr2231582481231582658E071-11431
chr2231582802231583082E071-11007
chr2231602916231603530E0718827
chr2231615732231616286E07121643
chr2231616417231616469E07122328
chr2231621875231621956E07127786
chr2231622073231622215E07127984
chr2231622270231622438E07128181
chr2231629960231630061E07135871
chr2231580545231580595E072-13494
chr2231580805231580875E072-13214
chr2231582286231582469E072-11620
chr2231582481231582658E072-11431
chr2231582802231583082E072-11007
chr2231602916231603530E0728827
chr2231615732231616286E07221643
chr2231620627231621187E07226538
chr2231623512231623891E07229423
chr2231623947231624121E07229858
chr2231630275231630623E07236186
chr2231555760231556208E073-37881
chr2231580545231580595E073-13494
chr2231582211231582261E073-11828
chr2231582286231582469E073-11620
chr2231582481231582658E073-11431
chr2231617518231617727E07323429
chr2231623345231623504E07329256
chr2231623512231623891E07329423
chr2231623947231624121E07329858
chr2231624214231624407E07330125
chr2231643430231643580E07349341
chr2231580545231580595E074-13494
chr2231582286231582469E074-11620
chr2231582481231582658E074-11431
chr2231582802231583082E074-11007
chr2231584571231584661E074-9428
chr2231584774231584855E074-9234
chr2231602514231602906E0748425
chr2231602916231603530E0748827
chr2231615732231616286E07421643
chr2231623345231623504E07429256
chr2231623512231623891E07429423
chr2231623947231624121E07429858
chr2231555331231555518E081-38571
chr2231580545231580595E081-13494
chr2231555331231555518E082-38571










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2231576818231579281E067-14808
chr2231576818231579281E068-14808
chr2231576818231579281E069-14808
chr2231576818231579281E070-14808
chr2231576818231579281E071-14808
chr2231576818231579281E072-14808
chr2231576818231579281E073-14808
chr2231576818231579281E074-14808
chr2231576818231579281E081-14808
chr2231576818231579281E082-14808