rs12731963

Homo sapiens
T>C
OLFM3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0164 (4924/29918,GnomAD)
C=0158 (4617/29118,TOPMED)
C=0112 (560/5008,1000G)
C=0274 (1056/3854,ALSPAC)
C=0274 (1015/3708,TWINSUK)
chr1:101916848 (GRCh38.p7) (1p21.1)
ND
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.101916848T>C
GRCh37.p13 chr 1NC_000001.10:g.102382404T>C

Gene: OLFM3, olfactomedin 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
OLFM3 transcript variant 3NM_001288823.1:c.N/AIntron Variant
OLFM3 transcript variant 2NM_058170.3:c.N/AIntron Variant
OLFM3 transcript variant 1NM_001288821.1:c.N/AGenic Upstream Transcript Variant
OLFM3 transcript variant 4NR_110210.1:n.N/AIntron Variant
OLFM3 transcript variant 5NR_110211.1:n.N/AIntron Variant
OLFM3 transcript variant 6NR_110212.1:n.N/AGenic Upstream Transcript Variant
OLFM3 transcript variant X1XM_017000240.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.983C=0.017
1000GenomesAmericanSub694T=0.830C=0.170
1000GenomesEast AsianSub1008T=0.981C=0.019
1000GenomesEuropeSub1006T=0.727C=0.273
1000GenomesGlobalStudy-wide5008T=0.888C=0.112
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.726C=0.274
The Genome Aggregation DatabaseAfricanSub8724T=0.947C=0.053
The Genome Aggregation DatabaseAmericanSub838T=0.850C=0.150
The Genome Aggregation DatabaseEast AsianSub1616T=0.986C=0.014
The Genome Aggregation DatabaseEuropeSub18438T=0.770C=0.229
The Genome Aggregation DatabaseGlobalStudy-wide29918T=0.835C=0.164
The Genome Aggregation DatabaseOtherSub302T=0.740C=0.260
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.841C=0.158
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.726C=0.274
PMID Title Author Journal
22377092ANAPC1 and SLCO3A1 are associated with nicotine dependence: meta-analysis of genome-wide association studies.Wang KSDrug Alcohol Depend

P-Value

SNP ID p-value Traits Study
rs127319634.7E-05nicotine dependence (smoking)22377092

eQTL of rs12731963 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 rs12731963 in Fetal Brain

Probe ID Position Gene beta p-value
cg08703722chr19:8127148CCL25-0.01363212319523959.6418e-9

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 )
chr1102381450102381705E070-699
chr1102367700102368361E081-14043
chr1102368465102368524E081-13880