rs2249431

Homo sapiens
T>C
SIRPD : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0178 (5340/29916,GnomAD)
C=0146 (4278/29118,TOPMED)
C=0104 (520/5008,1000G)
C=0252 (970/3854,ALSPAC)
C=0256 (951/3708,TWINSUK)
chr20:1552559 (GRCh38.p7) (20p13)
ND
GWASdb2
1   publication(s)
See rs on genome
11 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.1552559T>C
GRCh37.p13 chr 20NC_000020.10:g.1533205T>C

Gene: SIRPD, signal regulatory protein delta(minus strand)

Molecule type Change Amino acid[Codon] SO Term
SIRPD transcriptNM_178460.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.989C=0.011
1000GenomesAmericanSub694T=0.890C=0.110
1000GenomesEast AsianSub1008T=0.981C=0.019
1000GenomesEuropeSub1006T=0.769C=0.231
1000GenomesGlobalStudy-wide5008T=0.896C=0.104
1000GenomesSouth AsianSub978T=0.820C=0.180
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.748C=0.252
The Genome Aggregation DatabaseAfricanSub8710T=0.952C=0.048
The Genome Aggregation DatabaseAmericanSub836T=0.880C=0.120
The Genome Aggregation DatabaseEast AsianSub1622T=0.986C=0.014
The Genome Aggregation DatabaseEuropeSub18446T=0.741C=0.258
The Genome Aggregation DatabaseGlobalStudy-wide29916T=0.821C=0.178
The Genome Aggregation DatabaseOtherSub302T=0.880C=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.853C=0.146
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.744C=0.256
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
rs22494310.000357nicotine smoking19268276

eQTL of rs2249431 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 rs2249431 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 )
chr2014841901484706E067-48499
chr2014847571484801E067-48404
chr2014841901484706E071-48499
chr2014899551490195E071-43010
chr2014903121490372E071-42833
chr2014904801490530E071-42675
chr2014841901484706E072-48499
chr2014899551490195E072-43010
chr2014903121490372E072-42833
chr2014841901484706E074-48499
chr2014847571484801E074-48404