rs7313149

Homo sapiens
T>C
GRIN2B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0212 (6358/29890,GnomAD)
C=0201 (5861/29118,TOPMED)
C=0206 (1030/5008,1000G)
C=0188 (724/3854,ALSPAC)
C=0194 (718/3708,TWINSUK)
chr12:13675353 (GRCh38.p7) (12p13.1)
ND
GWASdb2
2   publication(s)
See rs on genome
25 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.13675353T>C
GRCh37.p13 chr 12NC_000012.11:g.13828287T>C
GRIN2B RefSeqGeneNG_031854.1:g.309736A>G

Gene: GRIN2B, glutamate receptor, ionotropic, N-methyl D-aspartate 2B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GRIN2B transcriptNM_000834.3:c.N/AIntron Variant
GRIN2B transcript variant X2XM_011520628.2:c.N/AIntron Variant
GRIN2B transcript variant X1XM_011520629.2:c.N/AIntron Variant
GRIN2B transcript variant X3XM_017019219.1:c.N/AIntron Variant
GRIN2B transcript variant X4XM_005253351.3:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.741C=0.259
1000GenomesAmericanSub694T=0.820C=0.180
1000GenomesEast AsianSub1008T=0.834C=0.166
1000GenomesEuropeSub1006T=0.825C=0.175
1000GenomesGlobalStudy-wide5008T=0.794C=0.206
1000GenomesSouth AsianSub978T=0.780C=0.220
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.812C=0.188
The Genome Aggregation DatabaseAfricanSub8712T=0.757C=0.243
The Genome Aggregation DatabaseAmericanSub836T=0.800C=0.200
The Genome Aggregation DatabaseEast AsianSub1582T=0.835C=0.165
The Genome Aggregation DatabaseEuropeSub18458T=0.794C=0.205
The Genome Aggregation DatabaseGlobalStudy-wide29890T=0.787C=0.212
The Genome Aggregation DatabaseOtherSub302T=0.930C=0.070
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.798C=0.201
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.806C=0.194
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet
22719919Glutamate and synaptic plasticity systems and smoking behavior: results from a genetic association study.dos Santos VAPLoS One

P-Value

SNP ID p-value Traits Study
rs73131496.73E-05nicotine smoking19268276

eQTL of rs7313149 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 rs7313149 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 )
chr121381376113814066E068-14221
chr121381410313814598E068-13689
chr121378440613784537E069-43750
chr121381410313814598E069-13689
chr121382300713823082E069-5205
chr121382336613823768E069-4519
chr121381410313814598E071-13689
chr121381410313814598E072-13689
chr121381629813816352E073-11935
chr121381896413819053E073-9234
chr121382191813822114E081-6173
chr121382239613822502E081-5785
chr121382300713823082E081-5205
chr121382336613823768E081-4519
chr121382392213824001E081-4286
chr121382437513824429E081-3858
chr121382475013824800E081-3487
chr121383925313839518E08110966
chr121383957313839623E08111286
chr121384438413844523E08116097
chr121384457213844882E08116285
chr121385102813851152E08122741
chr121378440613784537E082-43750
chr121382300713823082E082-5205
chr121384457213844882E08216285