rs8128946

Homo sapiens
A>G
DSCAM : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0204 (6136/29946,GnomAD)
G=0246 (7165/29118,TOPMED)
G=0183 (915/5008,1000G)
G=0138 (533/3854,ALSPAC)
G=0152 (563/3708,TWINSUK)
chr21:40784506 (GRCh38.p7) (21q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
61 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.40784506A>G
GRCh37.p13 chr 21NC_000021.8:g.42156432A>G

Gene: DSCAM, Down syndrome cell adhesion molecule(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DSCAM transcript variant 2NM_001271534.1:c.N/AIntron Variant
DSCAM transcript variant 1NM_001389.3:c.N/AIntron Variant
DSCAM transcript variant 3NR_073202.1:n.N/AIntron Variant
DSCAM transcript variant X1XM_017028281.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.558G=0.442
1000GenomesAmericanSub694A=0.910G=0.090
1000GenomesEast AsianSub1008A=0.967G=0.033
1000GenomesEuropeSub1006A=0.863G=0.137
1000GenomesGlobalStudy-wide5008A=0.817G=0.183
1000GenomesSouth AsianSub978A=0.900G=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.862G=0.138
The Genome Aggregation DatabaseAfricanSub8708A=0.620G=0.380
The Genome Aggregation DatabaseAmericanSub838A=0.890G=0.110
The Genome Aggregation DatabaseEast AsianSub1618A=0.953G=0.047
The Genome Aggregation DatabaseEuropeSub18480A=0.858G=0.141
The Genome Aggregation DatabaseGlobalStudy-wide29946A=0.795G=0.204
The Genome Aggregation DatabaseOtherSub302A=0.870G=0.130
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.753G=0.246
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.848G=0.152
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
rs81289460.00063Alcohol dependence (early age of onset)20201924
rs81289460.00066alcohol dependence20201924

eQTL of rs8128946 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 rs8128946 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 )
chr214218594742186159E06929515
chr214216128242161386E0704850
chr214216452442164830E0708092
chr214216493742165365E0708505
chr214217467442174714E07018242
chr214217489842174948E07018466
chr214217516442175286E07018732
chr214218700242187082E07030570
chr214218712742187302E07030695
chr214220432242204591E07047890
chr214217715842177208E07320726
chr214217731242177352E07320880
chr214217756242177612E07321130
chr214212295142123098E081-33334
chr214212354742123597E081-32835
chr214212361742123692E081-32740
chr214212393542124035E081-32397
chr214212415642124330E081-32102
chr214213772642138141E081-18291
chr214213831442138562E081-17870
chr214213896342139013E081-17419
chr214213953942139735E081-16697
chr214213977942139908E081-16524
chr214214009642140311E081-16121
chr214214059442140644E081-15788
chr214216322742163277E0816795
chr214216396542164025E0817533
chr214216452442164830E0818092
chr214216493742165365E0818505
chr214216579842165848E0819366
chr214216809642168264E08111664
chr214216851142168997E08112079
chr214216929542169702E08112863
chr214216991342170230E08113481
chr214217467442174714E08118242
chr214217489842174948E08118466
chr214217516442175286E08118732
chr214218905342189426E08132621
chr214218944142189693E08133009
chr214219095642191243E08134524
chr214219140342191773E08134971
chr214220432242204591E08147890
chr214213772642138141E082-18291
chr214213831442138562E082-17870
chr214213896342139013E082-17419
chr214213953942139735E082-16697
chr214213977942139908E082-16524
chr214214107442141124E082-15308
chr214214117642141278E082-15154
chr214214249242142558E082-13874
chr214216452442164830E0828092
chr214216493742165365E0828505
chr214217467442174714E08218242
chr214217489842174948E08218466
chr214217516442175286E08218732
chr214218647542186525E08230043
chr214218658742186639E08230155
chr214218851942188684E08232087
chr214218905342189426E08232621
chr214218944142189693E08233009
chr214220432242204591E08247890