rs12423978

Homo sapiens
C>T
GRIN2B : 3 Prime UTR Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0029 (881/29974,GnomAD)
T=0032 (940/29118,TOPMED)
T=0028 (142/5008,1000G)
T=0039 (149/3854,ALSPAC)
T=0032 (120/3708,TWINSUK)
chr12:13556918 (GRCh38.p7) (12p13.1)
AD
GWASdb2
1   publication(s)
See rs on genome
64 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.13556918C>T
GRCh37.p13 chr 12NC_000012.11:g.13709852C>T

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/AGenic Downstream Transcript Variant
GRIN2B transcript variant X1XM_011520629.2:c.N/A3 Prime UTR Variant
GRIN2B transcript variant X2XM_011520628.2:c.N/A3 Prime UTR Variant
GRIN2B transcript variant X3XM_017019219.1:c.N/A3 Prime UTR Variant
GRIN2B transcript variant X4XM_005253351.3:c.N/A3 Prime UTR Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.992T=0.008
1000GenomesAmericanSub694C=0.980T=0.020
1000GenomesEast AsianSub1008C=0.999T=0.001
1000GenomesEuropeSub1006C=0.961T=0.039
1000GenomesGlobalStudy-wide5008C=0.972T=0.028
1000GenomesSouth AsianSub978C=0.920T=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.961T=0.039
The Genome Aggregation DatabaseAfricanSub8728C=0.985T=0.015
The Genome Aggregation DatabaseAmericanSub838C=0.970T=0.030
The Genome Aggregation DatabaseEast AsianSub1618C=0.998T=0.002
The Genome Aggregation DatabaseEuropeSub18488C=0.962T=0.038
The Genome Aggregation DatabaseGlobalStudy-wide29974C=0.970T=0.029
The Genome Aggregation DatabaseOtherSub302C=0.940T=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.967T=0.032
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.968T=0.032
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs124239787.09E-05alcohol consumption23953852

eQTL of rs12423978 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 rs12423978 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 )
chr121368390913684167E067-25685
chr121368454213684592E067-25260
chr121368667613686841E067-23011
chr121368686113686911E067-22941
chr121368724813688049E067-21803
chr121368369913683749E068-26103
chr121368454213684592E068-25260
chr121368645013686500E068-23352
chr121368667613686841E068-23011
chr121368686113686911E068-22941
chr121368390913684167E069-25685
chr121368454213684592E069-25260
chr121368390913684167E070-25685
chr121368454213684592E070-25260
chr121368518413685257E070-24595
chr121368645013686500E070-23352
chr121368667613686841E070-23011
chr121368686113686911E070-22941
chr121368724813688049E070-21803
chr121368812413688250E070-21602
chr121373322613733562E07023374
chr121374767413748143E07037822
chr121374823613748292E07038384
chr121374853713748765E07038685
chr121374880213749090E07038950
chr121374909913749234E07039247
chr121374945313749618E07039601
chr121374974013749844E07039888
chr121374987913750161E07040027
chr121368390913684167E071-25685
chr121368454213684592E071-25260
chr121368667613686841E071-23011
chr121368686113686911E071-22941
chr121368812413688250E071-21602
chr121368667613686841E072-23011
chr121368686113686911E072-22941
chr121372389213723943E07214040
chr121372400713724420E07214155
chr121373322613733562E07223374
chr121368390913684167E074-25685
chr121368454213684592E074-25260
chr121372389213723943E07414040
chr121374945313749618E07439601
chr121374974013749844E07439888
chr121374987913750161E07440027
chr121373275813732980E08122906
chr121373322613733562E08123374
chr121373671013736836E08126858
chr121373782013738055E08127968
chr121373824613738319E08128394
chr121373837813738418E08128526
chr121374767413748143E08137822
chr121374823613748292E08138384
chr121368724813688049E082-21803
chr121368812413688250E082-21602
chr121373751613737793E08227664
chr121373782013738055E08227968
chr121373824613738319E08228394
chr121373837813738418E08228526
chr121374767413748143E08237822
chr121374823613748292E08238384
chr121374853713748765E08238685
chr121374880213749090E08238950
chr121374909913749234E08239247