rs4807395

Homo sapiens
A>G
GRIN3B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0348 (10140/29118,TOPMED)
A==0382 (10748/28084,GnomAD)
A==0396 (1982/5008,1000G)
A==0467 (1798/3854,ALSPAC)
A==0476 (1766/3708,TWINSUK)
chr19:1002848 (GRCh38.p7) (19p13.3)
AD
GWASdb2
1   publication(s)
See rs on genome
107 Enhancers around
28 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 19NC_000019.10:g.1002848A>G
GRCh37.p13 chr 19NC_000019.9:g.1002847A>G

Gene: GRIN3B, glutamate ionotropic receptor NMDA type subunit 3B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
GRIN3B transcriptNM_138690.2:c.N/AIntron Variant
GRIN3B transcript variant X1XM_017026243.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.207G=0.793
1000GenomesAmericanSub694A=0.570G=0.430
1000GenomesEast AsianSub1008A=0.468G=0.532
1000GenomesEuropeSub1006A=0.451G=0.549
1000GenomesGlobalStudy-wide5008A=0.396G=0.604
1000GenomesSouth AsianSub978A=0.400G=0.600
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.467G=0.533
The Genome Aggregation DatabaseAfricanSub8514A=0.198G=0.802
The Genome Aggregation DatabaseAmericanSub798A=0.540G=0.460
The Genome Aggregation DatabaseEast AsianSub1612A=0.467G=0.533
The Genome Aggregation DatabaseEuropeSub16860A=0.461G=0.538
The Genome Aggregation DatabaseGlobalStudy-wide28084A=0.382G=0.617
The Genome Aggregation DatabaseOtherSub300A=0.330G=0.670
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.348G=0.651
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.476G=0.524
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs48073950.00029alcohol dependence(early age of onset)20201924
rs48073950.00074alcohol dependence20201924

eQTL of rs4807395 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 rs4807395 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 )
chr19983359983479E067-19368
chr19983553983756E067-19091
chr1910156081015844E06712761
chr1910158511016391E06713004
chr1910164891017758E06713642
chr1910177871017841E06714940
chr1910178421017926E06714995
chr1910180581018350E06715211
chr1910184261018691E06715579
chr1910187601018893E06715913
chr19983359983479E068-19368
chr19983553983756E068-19091
chr1910156081015844E06812761
chr1910158511016391E06813004
chr1910164891017758E06813642
chr1910177871017841E06814940
chr1910178421017926E06814995
chr1910180581018350E06815211
chr1910184261018691E06815579
chr1910187601018893E06815913
chr19983359983479E069-19368
chr19983553983756E069-19091
chr19995473995566E069-7281
chr1910158511016391E06913004
chr1910164891017758E06913642
chr1910177871017841E06914940
chr1910178421017926E06914995
chr1910180581018350E06915211
chr1910184261018691E06915579
chr1910187601018893E06915913
chr19955812957516E070-45331
chr19983359983479E070-19368
chr19983553983756E070-19091
chr19985442985779E070-17068
chr19985854986068E070-16779
chr1910156081015844E07012761
chr1910158511016391E07013004
chr1910164891017758E07013642
chr1910177871017841E07014940
chr1910178421017926E07014995
chr1910180581018350E07015211
chr1910184261018691E07015579
chr1910187601018893E07015913
chr1910427041042894E07039857
chr1910428971043079E07040050
chr19983359983479E071-19368
chr19983553983756E071-19091
chr1910156081015844E07112761
chr1910158511016391E07113004
chr1910164891017758E07113642
chr1910177871017841E07114940
chr1910178421017926E07114995
chr1910180581018350E07115211
chr1910184261018691E07115579
chr1910187601018893E07115913
chr19983359983479E072-19368
chr19983553983756E072-19091
chr1910158511016391E07213004
chr1910164891017758E07213642
chr1910177871017841E07214940
chr1910178421017926E07214995
chr1910180581018350E07215211
chr1910184261018691E07215579
chr1910187601018893E07215913
chr1910156081015844E07312761
chr1910158511016391E07313004
chr1910164891017758E07313642
chr1910177871017841E07314940
chr1910178421017926E07314995
chr1910180581018350E07315211
chr1910184261018691E07315579
chr1910187601018893E07315913
chr1910415611042684E07338714
chr19983359983479E074-19368
chr19983553983756E074-19091
chr1910158511016391E07413004
chr1910164891017758E07413642
chr1910177871017841E07414940
chr1910178421017926E07414995
chr1910180581018350E07415211
chr1910184261018691E07415579
chr1910187601018893E07415913
chr19983359983479E081-19368
chr19983553983756E081-19091
chr19985276985326E081-17521
chr19985442985779E081-17068
chr1910164891017758E08113642
chr1910177871017841E08114940
chr1910178421017926E08114995
chr1910180581018350E08115211
chr1910184261018691E08115579
chr1910187601018893E08115913
chr1910415611042684E08138714
chr1910427041042894E08139857
chr1910428971043079E08140050
chr19985276985326E082-17521
chr19985442985779E082-17068
chr19985854986068E082-16779
chr19986132986303E082-16544
chr19986710986821E082-16026
chr1910158511016391E08213004
chr1910164891017758E08213642
chr1910177871017841E08214940
chr1910178421017926E08214995
chr1910180581018350E08215211
chr1910184261018691E08215579
chr1910187601018893E08215913










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr19983831985184E067-17663
chr1910195561022221E06716709
chr1910259091029005E06723062
chr19983831985184E068-17663
chr1910195561022221E06816709
chr1910259091029005E06823062
chr19983831985184E069-17663
chr1910195561022221E06916709
chr1910259091029005E06923062
chr19983831985184E070-17663
chr1910195561022221E07016709
chr19983831985184E071-17663
chr1910195561022221E07116709
chr1910259091029005E07123062
chr19983831985184E072-17663
chr1910195561022221E07216709
chr1910259091029005E07223062
chr19983831985184E073-17663
chr1910195561022221E07316709
chr1910259091029005E07323062
chr19983831985184E074-17663
chr1910195561022221E07416709
chr1910259091029005E07423062
chr1910195561022221E08116709
chr19983831985184E082-17663
chr1910001181000408E082-2439
chr1910195561022221E08216709
chr1910259091029005E08223062