rs2303904

Homo sapiens
A>C / A>G
SMYD5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0435 (12993/29862,GnomAD)
G=0450 (13118/29116,TOPMED)
A==0441 (5738/13006,GO-ESP)
G=0425 (2128/5008,1000G)
G=0409 (1575/3854,ALSPAC)
G=0431 (1598/3708,TWINSUK)
chr2:73220647 (GRCh38.p7) (2p13.2)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.73220647A>C
GRCh38.p7 chr 2NC_000002.12:g.73220647A>G
GRCh37.p13 chr 2NC_000002.11:g.73447775A>C
GRCh37.p13 chr 2NC_000002.11:g.73447775A>G

Gene: SMYD5, SMYD family member 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
SMYD5 transcriptNM_006062.2:c.N/AIntron Variant
SMYD5 transcript variant X2XM_006711918.3:c.N/AIntron Variant
SMYD5 transcript variant X1XM_017003163.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.449G=0.551
1000GenomesAmericanSub694A=0.620G=0.380
1000GenomesEast AsianSub1008A=0.608G=0.392
1000GenomesEuropeSub1006A=0.583G=0.417
1000GenomesGlobalStudy-wide5008A=0.575G=0.425
1000GenomesSouth AsianSub978A=0.670G=0.330
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.591G=0.409
The Genome Aggregation DatabaseAfricanSub8680A=0.468G=0.532
The Genome Aggregation DatabaseAmericanSub836A=0.660G=0.340
The Genome Aggregation DatabaseEast AsianSub1614A=0.618G=0.382
The Genome Aggregation DatabaseEuropeSub18430A=0.601G=0.399
The Genome Aggregation DatabaseGlobalStudy-wide29862A=0.564G=0.435
The Genome Aggregation DatabaseOtherSub302A=0.610G=0.390
Trans-Omics for Precision MedicineGlobalStudy-wide29116A=0.549G=0.450
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.569G=0.431
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
rs23039040.000768nicotine smoking19268276

eQTL of rs2303904 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr2:73447775NOTOENSG00000214513.3A>G1.8643e-1118389Cerebellar_Hemisphere

meQTL of rs2303904 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.