rs4763358

Homo sapiens
G>C
GRIN2B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0175 (5256/29896,GnomAD)
C=0149 (4356/29118,TOPMED)
C=0098 (490/5008,1000G)
C=0262 (1008/3854,ALSPAC)
C=0270 (1002/3708,TWINSUK)
chr12:13720757 (GRCh38.p7) (12p13.1)
ND
GWASdb2
1   publication(s)
See rs on genome
55 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.13720757G>C
GRCh37.p13 chr 12NC_000012.11:g.13873691G>C
GRIN2B RefSeqGeneNG_031854.1:g.264332C>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
1000GenomesAfricanSub1322G=0.975C=0.025
1000GenomesAmericanSub694G=0.850C=0.150
1000GenomesEast AsianSub1008G=0.985C=0.015
1000GenomesEuropeSub1006G=0.721C=0.279
1000GenomesGlobalStudy-wide5008G=0.902C=0.098
1000GenomesSouth AsianSub978G=0.940C=0.060
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.738C=0.262
The Genome Aggregation DatabaseAfricanSub8724G=0.949C=0.051
The Genome Aggregation DatabaseAmericanSub836G=0.880C=0.120
The Genome Aggregation DatabaseEast AsianSub1574G=0.989C=0.011
The Genome Aggregation DatabaseEuropeSub18460G=0.749C=0.250
The Genome Aggregation DatabaseGlobalStudy-wide29896G=0.824C=0.175
The Genome Aggregation DatabaseOtherSub302G=0.790C=0.210
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.850C=0.149
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.730C=0.270
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
rs47633580.000139nicotine smoking19268276

eQTL of rs4763358 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 rs4763358 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 )
chr121389249713892561E06718806
chr121389259813892955E06718907
chr121389306913893560E06719378
chr121389936113899411E06725670
chr121388066913881177E0686978
chr121390393313903984E06830242
chr121389259813892955E06918907
chr121389306913893560E06919378
chr121391557313915724E06941882
chr121388022513880438E0706534
chr121388066913881177E0706978
chr121389699313897084E07023302
chr121389733513897432E07023644
chr121389751913898008E07023828
chr121389803813898278E07024347
chr121389828113898728E07024590
chr121389803813898278E07224347
chr121389828113898728E07224590
chr121391557313915724E07241882
chr121391600513916256E07242314
chr121390229713902731E07328606
chr121390308213903143E07329391
chr121382392213824001E081-49690
chr121382437513824429E081-49262
chr121382475013824800E081-48891
chr121383925313839518E081-34173
chr121383957313839623E081-34068
chr121384438413844523E081-29168
chr121384457213844882E081-28809
chr121385102813851152E081-22539
chr121389249713892561E08118806
chr121389259813892955E08118907
chr121389306913893560E08119378
chr121389682613896927E08123135
chr121389699313897084E08123302
chr121389733513897432E08123644
chr121389751913898008E08123828
chr121389803813898278E08124347
chr121389828113898728E08124590
chr121389936113899411E08125670
chr121392042713920534E08146736
chr121392124013921280E08147549
chr121392209313922177E08148402
chr121392227613922597E08148585
chr121392296113923272E08149270
chr121392333113923455E08149640
chr121384457213844882E082-28809
chr121388022513880438E0826534
chr121388066913881177E0826978
chr121389306913893560E08219378
chr121389699313897084E08223302
chr121389733513897432E08223644
chr121389751913898008E08223828
chr121389803813898278E08224347
chr121389828113898728E08224590