rs4681800

Homo sapiens
T>A
FLNB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0424 (12708/29910,GnomAD)
A=0484 (14106/29118,TOPMED)
T==0355 (1779/5008,1000G)
A=0253 (975/3854,ALSPAC)
A=0238 (881/3708,TWINSUK)
chr3:58124021 (GRCh38.p7) (3p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
114 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.58124021T>A
GRCh37.p13 chr 3NC_000003.11:g.58109748T>A
FLNB RefSeqGeneNG_012801.1:g.120622T>A

Gene: FLNB, filamin B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FLNB transcript variant 1NM_001164317.1:c.N/AIntron Variant
FLNB transcript variant 3NM_001164318.1:c.N/AIntron Variant
FLNB transcript variant 4NM_001164319.1:c.N/AIntron Variant
FLNB transcript variant 2NM_001457.3:c.N/AIntron Variant
FLNB transcript variant X1XM_005264978.1:c.N/AIntron Variant
FLNB transcript variant X2XR_001740065.1:n.N/AIntron Variant
FLNB transcript variant X3XR_940396.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.231A=0.769
1000GenomesAmericanSub694T=0.510A=0.490
1000GenomesEast AsianSub1008T=0.029A=0.971
1000GenomesEuropeSub1006T=0.717A=0.283
1000GenomesGlobalStudy-wide5008T=0.355A=0.645
1000GenomesSouth AsianSub978T=0.380A=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.747A=0.253
The Genome Aggregation DatabaseAfricanSub8708T=0.313A=0.687
The Genome Aggregation DatabaseAmericanSub836T=0.470A=0.530
The Genome Aggregation DatabaseEast AsianSub1618T=0.030A=0.970
The Genome Aggregation DatabaseEuropeSub18446T=0.748A=0.252
The Genome Aggregation DatabaseGlobalStudy-wide29910T=0.575A=0.424
The Genome Aggregation DatabaseOtherSub302T=0.800A=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.515A=0.484
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.762A=0.238
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
rs46818000.000812alcohol dependence21314694

eQTL of rs4681800 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 rs4681800 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 )
chr35806774858068130E067-41618
chr35814042258140740E06730674
chr35814074558141049E06730997
chr35814540958145571E06735661
chr35814559558145728E06735847
chr35815289258153768E06743144
chr35808055858080630E068-29118
chr35808815658088480E068-21268
chr35808860558089245E068-20503
chr35808929658089485E068-20263
chr35810269958102760E068-6988
chr35810281358102887E068-6861
chr35810288858103220E068-6528
chr35810327258103870E068-5878
chr35810589458106100E068-3648
chr35810611258106581E068-3167
chr35813728858137347E06827540
chr35813747958137617E06827731
chr35814042258140740E06830674
chr35814074558141049E06830997
chr35814950658151931E06839758
chr35815289258153768E06843144
chr35815377558153919E06844027
chr35815401058154062E06844262
chr35810611258106581E069-3167
chr35810664458106924E069-2824
chr35813728858137347E06927540
chr35813747958137617E06927731
chr35814042258140740E06930674
chr35814074558141049E06930997
chr35814540958145571E06935661
chr35814559558145728E06935847
chr35814887758149040E06939129
chr35814907958149486E06939331
chr35814950658151931E06939758
chr35815289258153768E06943144
chr35815377558153919E06944027
chr35810327258103870E070-5878
chr35813728858137347E07027540
chr35813747958137617E07027731
chr35814042258140740E07030674
chr35814074558141049E07030997
chr35808990858090083E071-19665
chr35810281358102887E071-6861
chr35810288858103220E071-6528
chr35810327258103870E071-5878
chr35810409158104157E071-5591
chr35813667758136784E07126929
chr35813728858137347E07127540
chr35813747958137617E07127731
chr35814042258140740E07130674
chr35814074558141049E07130997
chr35814950658151931E07139758
chr35815289258153768E07143144
chr35810555958105701E072-4047
chr35810589458106100E072-3648
chr35813747958137617E07227731
chr35814042258140740E07230674
chr35814074558141049E07230997
chr35814950658151931E07239758
chr35815289258153768E07243144
chr35815377558153919E07244027
chr35806774858068130E073-41618
chr35813728858137347E07327540
chr35813747958137617E07327731
chr35814540958145571E07335661
chr35814559558145728E07335847
chr35814950658151931E07339758
chr35815198058152144E07342232
chr35815289258153768E07343144
chr35815377558153919E07344027
chr35810281358102887E074-6861
chr35810288858103220E074-6528
chr35810327258103870E074-5878
chr35810555958105701E074-4047
chr35810589458106100E074-3648
chr35813667758136784E07426929
chr35813728858137347E07427540
chr35813747958137617E07427731
chr35814042258140740E07430674
chr35814074558141049E07430997
chr35814540958145571E07435661
chr35814559558145728E07435847
chr35814950658151931E07439758
chr35815289258153768E07443144
chr35815377558153919E07444027
chr35806000158060507E081-49241
chr35806083158060958E081-48790
chr35806122958061284E081-48464
chr35810174858102687E081-7061
chr35810269958102760E081-6988
chr35810281358102887E081-6861
chr35810288858103220E081-6528
chr35810327258103870E081-5878
chr35810409158104157E081-5591
chr35810462958105408E081-4340
chr35810555958105701E081-4047
chr35810589458106100E081-3648
chr35810611258106581E081-3167
chr35810664458106924E081-2824
chr35813047158130766E08120723
chr35813082458130924E08121076
chr35813728858137347E08127540
chr35813747958137617E08127731
chr35810269958102760E082-6988
chr35810281358102887E082-6861
chr35810288858103220E082-6528
chr35810327258103870E082-5878
chr35810409158104157E082-5591
chr35810462958105408E082-4340
chr35810589458106100E082-3648
chr35810611258106581E082-3167
chr35813728858137347E08227540
chr35813747958137617E08227731