rs16999304

Homo sapiens
T>C
DSCAM : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0009 (281/29986,GnomAD)
C=0013 (381/29118,TOPMED)
C=0007 (35/5008,1000G)
C=0000 (0/3854,ALSPAC)
C=0000 (1/3708,TWINSUK)
chr21:40119439 (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.40119439T>C
GRCh37.p13 chr 21NC_000021.8:g.41491366T>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=0.975C=0.025
1000GenomesAmericanSub694T=1.000C=0.000
1000GenomesEast AsianSub1008T=1.000C=0.000
1000GenomesEuropeSub1006T=0.999C=0.001
1000GenomesGlobalStudy-wide5008T=0.993C=0.007
1000GenomesSouth AsianSub978T=1.000C=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=1.000C=0.000
The Genome Aggregation DatabaseAfricanSub8726T=0.968C=0.032
The Genome Aggregation DatabaseAmericanSub838T=1.000C=0.000
The Genome Aggregation DatabaseEast AsianSub1622T=1.000C=0.000
The Genome Aggregation DatabaseEuropeSub18498T=0.999C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29986T=0.990C=0.009
The Genome Aggregation DatabaseOtherSub302T=1.000C=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.986C=0.013
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=1.000C=0.000
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
rs169993040.000197alcohol dependence20201924

eQTL of rs16999304 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 rs16999304 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 )
chr214149284941493177E0671483
chr214153834141538454E06746975
chr214153848541538651E06747119
chr214150621141506353E06814845
chr214150621141506353E06914845
chr214152661541526665E07035249
chr214152676741526863E07035401
chr214152697841527190E07035612
chr214153294141533072E07041575
chr214150621141506353E07214845
chr214145243141452634E081-38732
chr214145271041452760E081-38606
chr214145289841453192E081-38174
chr214151628341516434E08124917
chr214151668041516730E08125314
chr214152661541526665E08235249
chr214152676741526863E08235401
chr214152697841527190E08235612