rs2837524

Homo sapiens
C>T
DSCAM : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0472 (14075/29820,GnomAD)
T=0492 (14353/29118,TOPMED)
T=0438 (2196/5008,1000G)
T=0433 (1669/3854,ALSPAC)
T=0429 (1591/3708,TWINSUK)
chr21:40233218 (GRCh38.p7) (21q22.2)
ND
GWASdb2
1   publication(s)
See rs on genome
53 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.40233218C>T
GRCh37.p13 chr 21NC_000021.8:g.41605145C>T

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
1000GenomesAfricanSub1322C=0.393T=0.607
1000GenomesAmericanSub694C=0.610T=0.390
1000GenomesEast AsianSub1008C=0.725T=0.275
1000GenomesEuropeSub1006C=0.560T=0.440
1000GenomesGlobalStudy-wide5008C=0.562T=0.438
1000GenomesSouth AsianSub978C=0.580T=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.567T=0.433
The Genome Aggregation DatabaseAfricanSub8704C=0.409T=0.591
The Genome Aggregation DatabaseAmericanSub832C=0.600T=0.400
The Genome Aggregation DatabaseEast AsianSub1612C=0.740T=0.260
The Genome Aggregation DatabaseEuropeSub18370C=0.560T=0.440
The Genome Aggregation DatabaseGlobalStudy-wide29820C=0.528T=0.472
The Genome Aggregation DatabaseOtherSub302C=0.680T=0.320
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.507T=0.492
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.571T=0.429
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs28375240.000499alcohol and nictotine co-dependence20158304

eQTL of rs2837524 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 rs2837524 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 )
chr214156618541566239E068-38906
chr214156645241566502E068-38643
chr214156664441566849E068-38296
chr214161679241617048E06811647
chr214161707941617336E06811934
chr214161433241614382E0699187
chr214161440441614460E0699259
chr214161454941615044E0699404
chr214162703841627481E06921893
chr214156618541566239E070-38906
chr214156645241566502E070-38643
chr214157276041572813E070-32332
chr214157284341573158E070-31987
chr214157672041577235E070-27910
chr214158047741580760E070-24385
chr214158079241581302E070-23843
chr214158154741581782E070-23363
chr214161663041616680E07011485
chr214161679241617048E07011647
chr214161707941617336E07011934
chr214164107341641239E07035928
chr214161440441614460E0719259
chr214161454941615044E0719404
chr214161707941617336E07111934
chr214161707941617336E07311934
chr214162664941626734E07321504
chr214162673941626794E07321594
chr214162684741626935E07321702
chr214162703841627481E07321893
chr214161440441614460E0749259
chr214161454941615044E0749404
chr214157672041577235E081-27910
chr214161663041616680E08111485
chr214161679241617048E08111647
chr214161707941617336E08111934
chr214162664941626734E08121504
chr214162673941626794E08121594
chr214162684741626935E08121702
chr214162703841627481E08121893
chr214162758741628305E08122442
chr214164823541648745E08143090
chr214164876541648840E08143620
chr214164902441649074E08143879
chr214156645241566502E082-38643
chr214161679241617048E08211647
chr214161707941617336E08211934
chr214162281041622863E08217665
chr214162684741626935E08221702
chr214162703841627481E08221893
chr214162758741628305E08222442
chr214164149741641644E08236352
chr214164164541641695E08236500
chr214164187441642008E08236729