rs2837437

Homo sapiens
T>C
DSCAM : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0106 (3176/29964,GnomAD)
C=0114 (3331/29118,TOPMED)
C=0106 (530/5008,1000G)
C=0102 (392/3854,ALSPAC)
C=0095 (351/3708,TWINSUK)
chr21:40126099 (GRCh38.p7) (21q22.2)
AD
GWASdb2
1   publication(s)
See rs on genome
18 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.40126099T>C
GRCh37.p13 chr 21NC_000021.8:g.41498026T>C

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/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.858C=0.142
1000GenomesAmericanSub694T=0.930C=0.070
1000GenomesEast AsianSub1008T=0.861C=0.139
1000GenomesEuropeSub1006T=0.904C=0.096
1000GenomesGlobalStudy-wide5008T=0.894C=0.106
1000GenomesSouth AsianSub978T=0.940C=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.898C=0.102
The Genome Aggregation DatabaseAfricanSub8726T=0.848C=0.152
The Genome Aggregation DatabaseAmericanSub836T=0.940C=0.060
The Genome Aggregation DatabaseEast AsianSub1620T=0.877C=0.123
The Genome Aggregation DatabaseEuropeSub18480T=0.914C=0.085
The Genome Aggregation DatabaseGlobalStudy-wide29964T=0.894C=0.106
The Genome Aggregation DatabaseOtherSub302T=0.910C=0.090
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.885C=0.114
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.905C=0.095
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
rs28374370.00081alcohol dependence20201924

eQTL of rs2837437 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 rs2837437 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr214149284941493177E067-4849
chr214153834141538454E06740315
chr214153848541538651E06740459
chr214150621141506353E0688185
chr214150621141506353E0698185
chr214152661541526665E07028589
chr214152676741526863E07028741
chr214152697841527190E07028952
chr214153294141533072E07034915
chr214150621141506353E0728185
chr214145243141452634E081-45392
chr214145271041452760E081-45266
chr214145289841453192E081-44834
chr214151628341516434E08118257
chr214151668041516730E08118654
chr214152661541526665E08228589
chr214152676741526863E08228741
chr214152697841527190E08228952