rs2837420

Homo sapiens
A>G
DSCAM : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0214 (6418/29950,GnomAD)
G=0196 (5734/29118,TOPMED)
G=0190 (954/5008,1000G)
G=0179 (688/3854,ALSPAC)
G=0172 (637/3708,TWINSUK)
chr21:40070721 (GRCh38.p7) (21q22.2)
ND
GWASdb2
1   publication(s)
See rs on genome
92 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 21NC_000021.9:g.40070721A>G
GRCh37.p13 chr 21NC_000021.8:g.41442648A>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/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.725G=0.275
1000GenomesAmericanSub694A=0.880G=0.120
1000GenomesEast AsianSub1008A=0.844G=0.156
1000GenomesEuropeSub1006A=0.817G=0.183
1000GenomesGlobalStudy-wide5008A=0.810G=0.190
1000GenomesSouth AsianSub978A=0.830G=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.821G=0.179
The Genome Aggregation DatabaseAfricanSub8710A=0.749G=0.251
The Genome Aggregation DatabaseAmericanSub838A=0.850G=0.150
The Genome Aggregation DatabaseEast AsianSub1618A=0.839G=0.161
The Genome Aggregation DatabaseEuropeSub18482A=0.795G=0.204
The Genome Aggregation DatabaseGlobalStudy-wide29950A=0.785G=0.214
The Genome Aggregation DatabaseOtherSub302A=0.780G=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.803G=0.196
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.828G=0.172
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs28374200.000159nicotine smoking19268276

eQTL of rs2837420 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 rs2837420 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 )
chr214142437341424433E067-18215
chr214142446141424515E067-18133
chr214142472541424816E067-17832
chr214142401841424089E068-18559
chr214142427141424331E068-18317
chr214142437341424433E068-18215
chr214142446141424515E068-18133
chr214142472541424816E068-17832
chr214142490041425534E068-17114
chr214142098241421085E069-21563
chr214142112641422402E069-20246
chr214142472541424816E069-17832
chr214142490041425534E069-17114
chr214142427141424331E070-18317
chr214142437341424433E070-18215
chr214142446141424515E070-18133
chr214142472541424816E070-17832
chr214142490041425534E070-17114
chr214142903941429093E070-13555
chr214142914541429668E070-12980
chr214143185941432268E070-10380
chr214143232041432374E070-10274
chr214143281341432867E070-9781
chr214143293241433003E070-9645
chr214143313541433194E070-9454
chr214142557141425697E071-16951
chr214142098241421085E072-21563
chr214142112641422402E072-20246
chr214142401841424089E072-18559
chr214142427141424331E072-18317
chr214142437341424433E072-18215
chr214142446141424515E072-18133
chr214142472541424816E072-17832
chr214142490041425534E072-17114
chr214142557141425697E072-16951
chr214142614441426322E072-16326
chr214142903941429093E072-13555
chr214142557141425697E073-16951
chr214142437341424433E074-18215
chr214142446141424515E074-18133
chr214142472541424816E074-17832
chr214142401841424089E081-18559
chr214142427141424331E081-18317
chr214142437341424433E081-18215
chr214142446141424515E081-18133
chr214142472541424816E081-17832
chr214142490041425534E081-17114
chr214142557141425697E081-16951
chr214142583141425908E081-16740
chr214142614441426322E081-16326
chr214142634441426728E081-15920
chr214142903941429093E081-13555
chr214142914541429668E081-12980
chr214143015041430200E081-12448
chr214143185941432268E081-10380
chr214143232041432374E081-10274
chr214143281341432867E081-9781
chr214143293241433003E081-9645
chr214143313541433194E081-9454
chr214143335241433449E081-9199
chr214143357941433629E081-9019
chr214143376041433869E081-8779
chr214143405841434301E081-8347
chr214143608441436151E081-6497
chr214143630241436352E081-6296
chr214143668341436733E081-5915
chr214143945641439530E081-3118
chr214143959541439664E081-2984
chr214143973341440091E081-2557
chr214145243141452634E0819783
chr214145271041452760E08110062
chr214145289841453192E08110250
chr214142437341424433E082-18215
chr214142446141424515E082-18133
chr214142472541424816E082-17832
chr214142490041425534E082-17114
chr214142557141425697E082-16951
chr214142583141425908E082-16740
chr214142614441426322E082-16326
chr214142634441426728E082-15920
chr214142903941429093E082-13555
chr214142914541429668E082-12980
chr214143015041430200E082-12448
chr214143185941432268E082-10380
chr214143232041432374E082-10274
chr214143281341432867E082-9781
chr214143830741438536E082-4112
chr214143862541438731E082-3917
chr214143914241439192E082-3456
chr214143945641439530E082-3118
chr214143959541439664E082-2984
chr214143973341440091E082-2557