rs13411251

Homo sapiens
T>G
CAB39 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0140 (4208/29932,GnomAD)
G=0185 (5404/29118,TOPMED)
G=0154 (772/5008,1000G)
G=0074 (285/3854,ALSPAC)
G=0084 (312/3708,TWINSUK)
chr2:230721625 (GRCh38.p7) (2q37.1)
AD
GWASdb2
1   publication(s)
See rs on genome
81 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.230721625T>G
GRCh37.p13 chr 2NC_000002.11:g.231586340T>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
1000GenomesAfricanSub1322T=0.623G=0.377
1000GenomesAmericanSub694T=0.910G=0.090
1000GenomesEast AsianSub1008T=0.933G=0.067
1000GenomesEuropeSub1006T=0.921G=0.079
1000GenomesGlobalStudy-wide5008T=0.846G=0.154
1000GenomesSouth AsianSub978T=0.930G=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.926G=0.074
The Genome Aggregation DatabaseAfricanSub8700T=0.694G=0.306
The Genome Aggregation DatabaseAmericanSub838T=0.930G=0.070
The Genome Aggregation DatabaseEast AsianSub1620T=0.974G=0.026
The Genome Aggregation DatabaseEuropeSub18472T=0.923G=0.076
The Genome Aggregation DatabaseGlobalStudy-wide29932T=0.859G=0.140
The Genome Aggregation DatabaseOtherSub302T=0.880G=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.814G=0.185
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=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
rs134112510.00024alcohol dependence(early age of onset)20201924
rs134112510.00031alcohol dependence20201924

eQTL of rs13411251 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 rs13411251 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 )
chr2231580545231580595E067-5745
chr2231582211231582261E067-4079
chr2231582286231582469E067-3871
chr2231582481231582658E067-3682
chr2231582802231583082E067-3258
chr2231584571231584661E067-1679
chr2231584774231584855E067-1485
chr2231602916231603530E06716576
chr2231623947231624121E06737607
chr2231580545231580595E068-5745
chr2231582211231582261E068-4079
chr2231582286231582469E068-3871
chr2231582481231582658E068-3682
chr2231600670231600765E06814330
chr2231602195231602249E06815855
chr2231602514231602906E06816174
chr2231602916231603530E06816576
chr2231615732231616286E06829392
chr2231623947231624121E06837607
chr2231624214231624407E06837874
chr2231555331231555518E069-30822
chr2231580545231580595E069-5745
chr2231582286231582469E069-3871
chr2231582481231582658E069-3682
chr2231582802231583082E069-3258
chr2231602916231603530E06916576
chr2231615732231616286E06929392
chr2231623345231623504E06937005
chr2231623512231623891E06937172
chr2231623947231624121E06937607
chr2231624214231624407E06937874
chr2231580545231580595E070-5745
chr2231623947231624121E07037607
chr2231580805231580875E071-5465
chr2231582211231582261E071-4079
chr2231582286231582469E071-3871
chr2231582481231582658E071-3682
chr2231582802231583082E071-3258
chr2231602916231603530E07116576
chr2231615732231616286E07129392
chr2231616417231616469E07130077
chr2231621875231621956E07135535
chr2231622073231622215E07135733
chr2231622270231622438E07135930
chr2231629960231630061E07143620
chr2231580545231580595E072-5745
chr2231580805231580875E072-5465
chr2231582286231582469E072-3871
chr2231582481231582658E072-3682
chr2231582802231583082E072-3258
chr2231602916231603530E07216576
chr2231615732231616286E07229392
chr2231620627231621187E07234287
chr2231623512231623891E07237172
chr2231623947231624121E07237607
chr2231630275231630623E07243935
chr2231555760231556208E073-30132
chr2231580545231580595E073-5745
chr2231582211231582261E073-4079
chr2231582286231582469E073-3871
chr2231582481231582658E073-3682
chr2231617518231617727E07331178
chr2231623345231623504E07337005
chr2231623512231623891E07337172
chr2231623947231624121E07337607
chr2231624214231624407E07337874
chr2231580545231580595E074-5745
chr2231582286231582469E074-3871
chr2231582481231582658E074-3682
chr2231582802231583082E074-3258
chr2231584571231584661E074-1679
chr2231584774231584855E074-1485
chr2231602514231602906E07416174
chr2231602916231603530E07416576
chr2231615732231616286E07429392
chr2231623345231623504E07437005
chr2231623512231623891E07437172
chr2231623947231624121E07437607
chr2231555331231555518E081-30822
chr2231580545231580595E081-5745
chr2231555331231555518E082-30822










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2231576818231579281E067-7059
chr2231576818231579281E068-7059
chr2231576818231579281E069-7059
chr2231576818231579281E070-7059
chr2231576818231579281E071-7059
chr2231576818231579281E072-7059
chr2231576818231579281E073-7059
chr2231576818231579281E074-7059
chr2231576818231579281E081-7059
chr2231576818231579281E082-7059