rs2362904

Homo sapiens
C>T
FLNB : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0409 (49426/120820,ExAC)
T=0430 (12889/29928,GnomAD)
T=0492 (14333/29118,TOPMED)
C==0402 (5234/13006,GO-ESP)
C==0351 (1760/5008,1000G)
T=0255 (982/3854,ALSPAC)
T=0238 (882/3708,TWINSUK)
chr3:58126761 (GRCh38.p7) (3p14.3)
AD
GWASdb2
2   publication(s)
See rs on genome
123 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.58126761C>T
GRCh37.p13 chr 3NC_000003.11:g.58112488C>T
FLNB RefSeqGeneNG_012801.1:g.123362C>T

Gene: FLNB, filamin B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
FLNB transcript variant 2NM_001457.3:c.422...NM_001457.3:c.4221C>TP [CCC]> P [CCT]Coding Sequence Variant
filamin-B isoform 2NP_001448.2:p.Pro...NP_001448.2:p.Pro1407=P [Pro]> P [Pro]Synonymous Variant
FLNB transcript variant 1NM_001164317.1:c....NM_001164317.1:c.4221C>TP [CCC]> P [CCT]Coding Sequence Variant
filamin-B isoform 1NP_001157789.1:p....NP_001157789.1:p.Pro1407=P [Pro]> P [Pro]Synonymous Variant
FLNB transcript variant 3NM_001164318.1:c....NM_001164318.1:c.4221C>TP [CCC]> P [CCT]Coding Sequence Variant
filamin-B isoform 3NP_001157790.1:p....NP_001157790.1:p.Pro1407=P [Pro]> P [Pro]Synonymous Variant
FLNB transcript variant 4NM_001164319.1:c....NM_001164319.1:c.4221C>TP [CCC]> P [CCT]Coding Sequence Variant
filamin-B isoform 4NP_001157791.1:p....NP_001157791.1:p.Pro1407=P [Pro]> P [Pro]Synonymous Variant
FLNB transcript variant X1XM_005264978.1:c....XM_005264978.1:c.4221C>TP [CCC]> P [CCT]Coding Sequence Variant
filamin-B isoform X1XP_005265035.1:p....XP_005265035.1:p.Pro1407=P [Pro]> P [Pro]Synonymous Variant
FLNB transcript variant X2XR_001740065.1:n....XR_001740065.1:n.4366C>TC>TNon Coding Transcript Variant
FLNB transcript variant X3XR_940396.2:n.436...XR_940396.2:n.4366C>TC>TNon Coding Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.215T=0.785
1000GenomesAmericanSub694C=0.510T=0.490
1000GenomesEast AsianSub1008C=0.029T=0.971
1000GenomesEuropeSub1006C=0.717T=0.283
1000GenomesGlobalStudy-wide5008C=0.351T=0.649
1000GenomesSouth AsianSub978C=0.380T=0.620
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.745T=0.255
The Exome Aggregation ConsortiumAmericanSub21890C=0.354T=0.645
The Exome Aggregation ConsortiumAsianSub25110C=0.331T=0.668
The Exome Aggregation ConsortiumEuropeSub72926C=0.750T=0.249
The Exome Aggregation ConsortiumGlobalStudy-wide120820C=0.590T=0.409
The Exome Aggregation ConsortiumOtherSub894C=0.660T=0.340
The Genome Aggregation DatabaseAfricanSub8704C=0.292T=0.708
The Genome Aggregation DatabaseAmericanSub838C=0.470T=0.530
The Genome Aggregation DatabaseEast AsianSub1612C=0.030T=0.970
The Genome Aggregation DatabaseEuropeSub18472C=0.747T=0.252
The Genome Aggregation DatabaseGlobalStudy-wide29928C=0.569T=0.430
The Genome Aggregation DatabaseOtherSub302C=0.800T=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.507T=0.492
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.762T=0.238
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
25741868Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Richards SGenet Med

P-Value

SNP ID p-value Traits Study
rs23629040.000244alcohol dependence20201924

eQTL of rs2362904 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 rs2362904 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 )
chr35806774858068130E067-44358
chr35814042258140740E06727934
chr35814074558141049E06728257
chr35814540958145571E06732921
chr35814559558145728E06733107
chr35815289258153768E06740404
chr35816091658161822E06748428
chr35816184058161966E06749352
chr35808055858080630E068-31858
chr35808815658088480E068-24008
chr35808860558089245E068-23243
chr35808929658089485E068-23003
chr35810269958102760E068-9728
chr35810281358102887E068-9601
chr35810288858103220E068-9268
chr35810327258103870E068-8618
chr35810589458106100E068-6388
chr35810611258106581E068-5907
chr35813728858137347E06824800
chr35813747958137617E06824991
chr35814042258140740E06827934
chr35814074558141049E06828257
chr35814950658151931E06837018
chr35815289258153768E06840404
chr35815377558153919E06841287
chr35815401058154062E06841522
chr35816091658161822E06848428
chr35810611258106581E069-5907
chr35810664458106924E069-5564
chr35813728858137347E06924800
chr35813747958137617E06924991
chr35814042258140740E06927934
chr35814074558141049E06928257
chr35814540958145571E06932921
chr35814559558145728E06933107
chr35814887758149040E06936389
chr35814907958149486E06936591
chr35814950658151931E06937018
chr35815289258153768E06940404
chr35815377558153919E06941287
chr35816073258160913E06948244
chr35816091658161822E06948428
chr35810327258103870E070-8618
chr35813728858137347E07024800
chr35813747958137617E07024991
chr35814042258140740E07027934
chr35814074558141049E07028257
chr35808990858090083E071-22405
chr35810281358102887E071-9601
chr35810288858103220E071-9268
chr35810327258103870E071-8618
chr35810409158104157E071-8331
chr35813667758136784E07124189
chr35813728858137347E07124800
chr35813747958137617E07124991
chr35814042258140740E07127934
chr35814074558141049E07128257
chr35814950658151931E07137018
chr35815289258153768E07140404
chr35816073258160913E07148244
chr35816184058161966E07149352
chr35810555958105701E072-6787
chr35810589458106100E072-6388
chr35813747958137617E07224991
chr35814042258140740E07227934
chr35814074558141049E07228257
chr35814950658151931E07237018
chr35815289258153768E07240404
chr35815377558153919E07241287
chr35816091658161822E07248428
chr35806774858068130E073-44358
chr35813728858137347E07324800
chr35813747958137617E07324991
chr35814540958145571E07332921
chr35814559558145728E07333107
chr35814950658151931E07337018
chr35815198058152144E07339492
chr35815289258153768E07340404
chr35815377558153919E07341287
chr35816091658161822E07348428
chr35810281358102887E074-9601
chr35810288858103220E074-9268
chr35810327258103870E074-8618
chr35810555958105701E074-6787
chr35810589458106100E074-6388
chr35813667758136784E07424189
chr35813728858137347E07424800
chr35813747958137617E07424991
chr35814042258140740E07427934
chr35814074558141049E07428257
chr35814540958145571E07432921
chr35814559558145728E07433107
chr35814950658151931E07437018
chr35815289258153768E07440404
chr35815377558153919E07441287
chr35816091658161822E07448428
chr35816184058161966E07449352
chr35816204858162203E07449560
chr35810174858102687E081-9801
chr35810269958102760E081-9728
chr35810281358102887E081-9601
chr35810288858103220E081-9268
chr35810327258103870E081-8618
chr35810409158104157E081-8331
chr35810462958105408E081-7080
chr35810555958105701E081-6787
chr35810589458106100E081-6388
chr35810611258106581E081-5907
chr35810664458106924E081-5564
chr35813047158130766E08117983
chr35813082458130924E08118336
chr35813728858137347E08124800
chr35813747958137617E08124991
chr35810269958102760E082-9728
chr35810281358102887E082-9601
chr35810288858103220E082-9268
chr35810327258103870E082-8618
chr35810409158104157E082-8331
chr35810462958105408E082-7080
chr35810589458106100E082-6388
chr35810611258106581E082-5907
chr35813728858137347E08224800
chr35813747958137617E08224991