rs34997741

Homo sapiens
T>C
GRIN2D : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0132 (3955/29764,GnomAD)
C=0116 (3405/29118,TOPMED)
C=0164 (820/5008,1000G)
C=0147 (566/3854,ALSPAC)
C=0155 (574/3708,TWINSUK)
chr19:48432396 (GRCh38.p7) (19q13.33)
AD
GWASdb2
1   publication(s)
See rs on genome
71 Enhancers around
56 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.48432396T>C
GRCh37.p13 chr 19NC_000019.9:g.48935653T>C

Gene: GRIN2D, glutamate ionotropic receptor NMDA type subunit 2D(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GRIN2D transcriptNM_000836.2:c.N/AIntron Variant
GRIN2D transcript variant X1XM_011526872.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.952C=0.048
1000GenomesAmericanSub694T=0.870C=0.130
1000GenomesEast AsianSub1008T=0.794C=0.206
1000GenomesEuropeSub1006T=0.831C=0.169
1000GenomesGlobalStudy-wide5008T=0.836C=0.164
1000GenomesSouth AsianSub978T=0.710C=0.290
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.853C=0.147
The Genome Aggregation DatabaseAfricanSub8704T=0.929C=0.071
The Genome Aggregation DatabaseAmericanSub836T=0.870C=0.130
The Genome Aggregation DatabaseEast AsianSub1612T=0.808C=0.192
The Genome Aggregation DatabaseEuropeSub18310T=0.844C=0.155
The Genome Aggregation DatabaseGlobalStudy-wide29764T=0.867C=0.132
The Genome Aggregation DatabaseOtherSub302T=0.800C=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.883C=0.116
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.845C=0.155
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs349977410.000446alcohol dependence21314694

eQTL of rs34997741 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 rs34997741 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 )
chr194895795548958010E06822302
chr194895803648958119E06822383
chr194898478048984948E06849127
chr194898498748985038E06849334
chr194898511948985445E06849466
chr194895632848956408E06920675
chr194895654048956609E06920887
chr194895668148956731E06921028
chr194896141848961579E06925765
chr194889263548892971E070-42682
chr194889302448893129E070-42524
chr194894525448945765E0709601
chr194895460348954671E07018950
chr194895480748954882E07019154
chr194895495548955011E07019302
chr194895517548955313E07019522
chr194895632848956408E07020675
chr194895654048956609E07020887
chr194895668148956731E07021028
chr194895901848959088E07023365
chr194895921848959258E07023565
chr194895926948959527E07023616
chr194895958248959632E07023929
chr194895982948959911E07024176
chr194896055848960608E07024905
chr194896062148960754E07024968
chr194896141848961579E07025765
chr194897075148970848E07035098
chr194897121548971281E07035562
chr194897498048975254E07039327
chr194897537848975418E07039725
chr194897578348975823E07040130
chr194897591848975977E07040265
chr194895758048957848E07121927
chr194895795548958010E07122302
chr194895803648958119E07122383
chr194895830448958510E07122651
chr194895853948958579E07122886
chr194895871548958765E07123062
chr194895926948959527E07123616
chr194898478048984948E07149127
chr194895564148955882E07219988
chr194895591948955990E07220266
chr194895632848956408E07220675
chr194898478048984948E07249127
chr194898498748985038E07249334
chr194889255648892627E073-43026
chr194889263548892971E073-42682
chr194889302448893129E073-42524
chr194895564148955882E07419988
chr194895591948955990E07420266
chr194895632848956408E07420675
chr194895654048956609E07420887
chr194889302448893129E081-42524
chr194889529648895399E081-40254
chr194889544648895562E081-40091
chr194889571048895764E081-39889
chr194889581948895964E081-39689
chr194894510148945202E0819448
chr194894525448945765E0819601
chr194897075148970848E08135098
chr194897121548971281E08135562
chr194898478048984948E08149127
chr194897479348974847E08239140
chr194897487348974924E08239220
chr194897498048975254E08239327
chr194897537848975418E08239725
chr194897578348975823E08240130
chr194897591848975977E08240265
chr194897611848976333E08240465
chr194897636348976440E08240710









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr194889358148895280E067-40373
chr194894722348949971E06711570
chr194897132148974523E06735668
chr194898278348984715E06747130
chr194889358148895280E068-40373
chr194894722348949971E06811570
chr194897132148974523E06835668
chr194898278348984715E06847130
chr194889329648893449E069-42204
chr194889352048893570E069-42083
chr194889358148895280E069-40373
chr194894700148947174E06911348
chr194894722348949971E06911570
chr194897132148974523E06935668
chr194889329648893449E070-42204
chr194889352048893570E070-42083
chr194889358148895280E070-40373
chr194894646448946848E07010811
chr194894722348949971E07011570
chr194897132148974523E07035668
chr194898278348984715E07047130
chr194889329648893449E071-42204
chr194889352048893570E071-42083
chr194889358148895280E071-40373
chr194890065348902629E071-33024
chr194894722348949971E07111570
chr194897132148974523E07135668
chr194898278348984715E07147130
chr194889352048893570E072-42083
chr194889358148895280E072-40373
chr194889632448898183E072-37470
chr194894722348949971E07211570
chr194897132148974523E07235668
chr194898278348984715E07247130
chr194889329648893449E073-42204
chr194889352048893570E073-42083
chr194889358148895280E073-40373
chr194889632448898183E073-37470
chr194890065348902629E073-33024
chr194894722348949971E07311570
chr194897132148974523E07335668
chr194898278348984715E07347130
chr194889358148895280E074-40373
chr194894722348949971E07411570
chr194897132148974523E07435668
chr194898278348984715E07447130
chr194894722348949971E08111570
chr194889352048893570E082-42083
chr194889358148895280E082-40373
chr194889632448898183E082-37470
chr194894619948946296E08210546
chr194894646448946848E08210811
chr194894700148947174E08211348
chr194894722348949971E08211570
chr194897132148974523E08235668
chr194898278348984715E08247130