rs2283029

Homo sapiens
T>C
RELN : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0178 (5349/29908,GnomAD)
C=0201 (5865/29118,TOPMED)
C=0169 (846/5008,1000G)
C=0161 (620/3854,ALSPAC)
C=0157 (583/3708,TWINSUK)
chr7:103757772 (GRCh38.p7) (7q22.1)
ND
GWASdb2
3   publication(s)
See rs on genome
10 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.103757772T>C
GRCh37.p13 chr 7NC_000007.13:g.103398219T>C
RELN RefSeqGeneNG_011877.1:g.236745A>G

Gene: RELN, reelin(minus strand)

Molecule type Change Amino acid[Codon] SO Term
RELN transcript variant 1NM_005045.3:c.N/AIntron Variant
RELN transcript variant 2NM_173054.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.728C=0.272
1000GenomesAmericanSub694T=0.870C=0.130
1000GenomesEast AsianSub1008T=0.888C=0.112
1000GenomesEuropeSub1006T=0.830C=0.170
1000GenomesGlobalStudy-wide5008T=0.831C=0.169
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.839C=0.161
The Genome Aggregation DatabaseAfricanSub8704T=0.742C=0.258
The Genome Aggregation DatabaseAmericanSub838T=0.880C=0.120
The Genome Aggregation DatabaseEast AsianSub1616T=0.905C=0.095
The Genome Aggregation DatabaseEuropeSub18448T=0.848C=0.151
The Genome Aggregation DatabaseGlobalStudy-wide29908T=0.821C=0.178
The Genome Aggregation DatabaseOtherSub302T=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.798C=0.201
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.843C=0.157
PMID Title Author Journal
19230858A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.Schrauwen IAm J Hum Genet
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet
25330160Analysis of schizophrenia data using a nonlinear threshold index logistic model.Jiang ZPLoS One

P-Value

SNP ID p-value Traits Study
rs22830290.000743nicotine dependence17158188

eQTL of rs2283029 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 rs2283029 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 )
chr7103356312103356512E070-41707
chr7103356531103356575E070-41644
chr7103359043103359108E070-39111
chr7103359292103359420E070-38799
chr7103359650103359733E070-38486
chr7103359756103359897E070-38322
chr7103436371103436511E07038152
chr7103438165103438354E07039946
chr7103368539103368705E081-29514
chr7103391868103392296E081-5923