rs4681795

Homo sapiens
T>C
FLNB : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0279 (8357/29934,GnomAD)
T==0232 (6771/29118,TOPMED)
T==0169 (846/5008,1000G)
T==0371 (1431/3854,ALSPAC)
T==0374 (1386/3708,TWINSUK)
chr3:58150702 (GRCh38.p7) (3p14.3)
AD
GWASdb2
1   publication(s)
See rs on genome
124 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.58150702T>C
GRCh37.p13 chr 3NC_000003.11:g.58136429T>C
FLNB RefSeqGeneNG_012801.1:g.147303T>C

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=0.065C=0.935
1000GenomesAmericanSub694T=0.250C=0.750
1000GenomesEast AsianSub1008T=0.002C=0.998
1000GenomesEuropeSub1006T=0.377C=0.623
1000GenomesGlobalStudy-wide5008T=0.169C=0.831
1000GenomesSouth AsianSub978T=0.210C=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.371C=0.629
The Genome Aggregation DatabaseAfricanSub8720T=0.107C=0.893
The Genome Aggregation DatabaseAmericanSub838T=0.260C=0.740
The Genome Aggregation DatabaseEast AsianSub1620T=0.001C=0.999
The Genome Aggregation DatabaseEuropeSub18454T=0.384C=0.615
The Genome Aggregation DatabaseGlobalStudy-wide29934T=0.279C=0.720
The Genome Aggregation DatabaseOtherSub302T=0.380C=0.620
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.232C=0.767
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.374C=0.626
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
rs46817950.000017alcoholismpha002891
rs46817950.000017alcohol dependence20201924

eQTL of rs4681795 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 rs4681795 in Fetal Brain

Probe ID Position Gene beta p-value
cg24395710chr3:581638150.009302512092760425.3603e-9

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 )
chr35814042258140740E0673993
chr35814074558141049E0674316
chr35814540958145571E0678980
chr35814559558145728E0679166
chr35815289258153768E06716463
chr35816091658161822E06724487
chr35816184058161966E06725411
chr35808815658088480E068-47949
chr35808860558089245E068-47184
chr35808929658089485E068-46944
chr35810269958102760E068-33669
chr35810281358102887E068-33542
chr35810288858103220E068-33209
chr35810327258103870E068-32559
chr35810589458106100E068-30329
chr35810611258106581E068-29848
chr35813728858137347E068859
chr35813747958137617E0681050
chr35814042258140740E0683993
chr35814074558141049E0684316
chr35814950658151931E06813077
chr35815289258153768E06816463
chr35815377558153919E06817346
chr35815401058154062E06817581
chr35816091658161822E06824487
chr35817341258173939E06836983
chr35818424658184322E06847817
chr35818467458184797E06848245
chr35810611258106581E069-29848
chr35810664458106924E069-29505
chr35813728858137347E069859
chr35813747958137617E0691050
chr35814042258140740E0693993
chr35814074558141049E0694316
chr35814540958145571E0698980
chr35814559558145728E0699166
chr35814887758149040E06912448
chr35814907958149486E06912650
chr35814950658151931E06913077
chr35815289258153768E06916463
chr35815377558153919E06917346
chr35816073258160913E06924303
chr35816091658161822E06924487
chr35810327258103870E070-32559
chr35813728858137347E070859
chr35813747958137617E0701050
chr35814042258140740E0703993
chr35814074558141049E0704316
chr35808990858090083E071-46346
chr35810281358102887E071-33542
chr35810288858103220E071-33209
chr35810327258103870E071-32559
chr35810409158104157E071-32272
chr35813667758136784E071248
chr35813728858137347E071859
chr35813747958137617E0711050
chr35814042258140740E0713993
chr35814074558141049E0714316
chr35814950658151931E07113077
chr35815289258153768E07116463
chr35816073258160913E07124303
chr35816184058161966E07125411
chr35810555958105701E072-30728
chr35810589458106100E072-30329
chr35813747958137617E0721050
chr35814042258140740E0723993
chr35814074558141049E0724316
chr35814950658151931E07213077
chr35815289258153768E07216463
chr35815377558153919E07217346
chr35816091658161822E07224487
chr35813728858137347E073859
chr35813747958137617E0731050
chr35814540958145571E0738980
chr35814559558145728E0739166
chr35814950658151931E07313077
chr35815198058152144E07315551
chr35815289258153768E07316463
chr35815377558153919E07317346
chr35816091658161822E07324487
chr35810281358102887E074-33542
chr35810288858103220E074-33209
chr35810327258103870E074-32559
chr35810555958105701E074-30728
chr35810589458106100E074-30329
chr35813667758136784E074248
chr35813728858137347E074859
chr35813747958137617E0741050
chr35814042258140740E0743993
chr35814074558141049E0744316
chr35814540958145571E0748980
chr35814559558145728E0749166
chr35814950658151931E07413077
chr35815289258153768E07416463
chr35815377558153919E07417346
chr35816091658161822E07424487
chr35816184058161966E07425411
chr35816204858162203E07425619
chr35810174858102687E081-33742
chr35810269958102760E081-33669
chr35810281358102887E081-33542
chr35810288858103220E081-33209
chr35810327258103870E081-32559
chr35810409158104157E081-32272
chr35810462958105408E081-31021
chr35810555958105701E081-30728
chr35810589458106100E081-30329
chr35810611258106581E081-29848
chr35810664458106924E081-29505
chr35813047158130766E081-5663
chr35813082458130924E081-5505
chr35813728858137347E081859
chr35813747958137617E0811050
chr35817490858175105E08138479
chr35810269958102760E082-33669
chr35810281358102887E082-33542
chr35810288858103220E082-33209
chr35810327258103870E082-32559
chr35810409158104157E082-32272
chr35810462958105408E082-31021
chr35810589458106100E082-30329
chr35810611258106581E082-29848
chr35813728858137347E082859
chr35813747958137617E0821050