rs459998

Homo sapiens
T>C
ADGRE1 : Intron Variant
LOC105372256 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0470 (14064/29890,GnomAD)
C=0482 (14050/29118,TOPMED)
T==0438 (2196/5008,1000G)
T==0446 (1717/3854,ALSPAC)
T==0453 (1680/3708,TWINSUK)
chr19:6914519 (GRCh38.p7) (19p13.2)
CD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.6914519T>C
GRCh37.p13 chr 19NC_000019.9:g.6914530T>C

Gene: ADGRE1, adhesion G protein-coupled receptor E1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ADGRE1 transcript variant 2NM_001256252.1:c.N/AIntron Variant
ADGRE1 transcript variant 3NM_001256253.1:c.N/AIntron Variant
ADGRE1 transcript variant 4NM_001256254.1:c.N/AIntron Variant
ADGRE1 transcript variant 5NM_001256255.1:c.N/AIntron Variant
ADGRE1 transcript variant 1NM_001974.4:c.N/AIntron Variant
ADGRE1 transcript variant X1XM_011527794.1:c.N/AIntron Variant

Gene: LOC105372256, uncharacterized LOC105372256(minus strand)

Molecule type Change Amino acid[Codon] SO Term
LOC105372256 transcriptXR_936288.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.626C=0.374
1000GenomesAmericanSub694T=0.430C=0.570
1000GenomesEast AsianSub1008T=0.236C=0.764
1000GenomesEuropeSub1006T=0.450C=0.550
1000GenomesGlobalStudy-wide5008T=0.438C=0.562
1000GenomesSouth AsianSub978T=0.390C=0.610
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.446C=0.554
The Genome Aggregation DatabaseAfricanSub8686T=0.588C=0.412
The Genome Aggregation DatabaseAmericanSub836T=0.370C=0.630
The Genome Aggregation DatabaseEast AsianSub1616T=0.210C=0.790
The Genome Aggregation DatabaseEuropeSub18450T=0.442C=0.557
The Genome Aggregation DatabaseGlobalStudy-wide29890T=0.470C=0.529
The Genome Aggregation DatabaseOtherSub302T=0.500C=0.500
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.517C=0.482
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.453C=0.547
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs4599980.0000864cocaine dependence23958962
rs4599980.000252cocaine dependence23958962

eQTL of rs459998 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 rs459998 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.