rs6465363

Homo sapiens
C>T
FAM133B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0058 (1746/29962,GnomAD)
T=0073 (2131/29118,TOPMED)
T=0105 (528/5008,1000G)
T=0016 (61/3854,ALSPAC)
T=0018 (66/3708,TWINSUK)
chr7:92577956 (GRCh38.p7) (7q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
177 Enhancers around
53 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.92577956C>T
GRCh37.p13 chr 7NC_000007.13:g.92207270C>T

Gene: FAM133B, family with sequence similarity 133 member B(minus strand)

Molecule type Change Amino acid[Codon] SO Term
FAM133B transcript variant 2NM_001040057.2:c.N/AIntron Variant
FAM133B transcript variant 3NM_001288584.1:c.N/AIntron Variant
FAM133B transcript variant 1NM_152789.3:c.N/AIntron Variant
FAM133B transcript variant 4NR_109929.1:n.N/AIntron Variant
FAM133B transcript variant X1XM_011516004.2:c.N/AIntron Variant
FAM133B transcript variant X2XM_011516005.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.892T=0.108
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.745T=0.255
1000GenomesEuropeSub1006C=0.982T=0.018
1000GenomesGlobalStudy-wide5008C=0.895T=0.105
1000GenomesSouth AsianSub978C=0.960T=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.984T=0.016
The Genome Aggregation DatabaseAfricanSub8728C=0.898T=0.102
The Genome Aggregation DatabaseAmericanSub838C=0.870T=0.130
The Genome Aggregation DatabaseEast AsianSub1614C=0.716T=0.284
The Genome Aggregation DatabaseEuropeSub18480C=0.985T=0.014
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.941T=0.058
The Genome Aggregation DatabaseOtherSub302C=0.920T=0.080
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.926T=0.073
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.982T=0.018
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
rs64653630.0009alcohol dependence20201924

eQTL of rs6465363 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:92207270RBM48ENSG00000127993.10C>T2.2782e-449183Hypothalamus

meQTL of rs6465363 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 )
chr79216383492163874E067-43396
chr79216392392164003E067-43267
chr79216404892164147E067-43123
chr79216480392164887E067-42383
chr79219272992193157E067-14113
chr79219327492193339E067-13931
chr79219339692193436E067-13834
chr79221422092214288E0676950
chr79221431292214375E0677042
chr79221437892214565E0677108
chr79221768592217738E06710415
chr79221780592217920E06710535
chr79222056492220784E06713294
chr79224158592242488E06734315
chr79224265392242942E06735383
chr79224319892243276E06735928
chr79224336292243466E06736092
chr79224353092243580E06736260
chr79224382292244544E06736552
chr79224470292244752E06737432
chr79225027892251282E06743008
chr79225147992251660E06744209
chr79225167192251805E06744401
chr79219647792196827E068-10443
chr79219684192197097E068-10173
chr79221422092214288E0686950
chr79221431292214375E0687042
chr79221437892214565E0687108
chr79221768592217738E06810415
chr79221780592217920E06810535
chr79223853792238611E06831267
chr79224158592242488E06834315
chr79224265392242942E06835383
chr79224319892243276E06835928
chr79224336292243466E06836092
chr79224353092243580E06836260
chr79224367592243715E06836405
chr79224382292244544E06836552
chr79224470292244752E06837432
chr79224492192244971E06837651
chr79224505392245127E06837783
chr79224531292245448E06838042
chr79225027892251282E06843008
chr79216383492163874E069-43396
chr79216392392164003E069-43267
chr79216404892164147E069-43123
chr79216480392164887E069-42383
chr79216553392165573E069-41697
chr79221422092214288E0696950
chr79221431292214375E0697042
chr79221437892214565E0697108
chr79221575892216105E0698488
chr79221615992216213E0698889
chr79221627092216374E0699000
chr79221768592217738E06910415
chr79221780592217920E06910535
chr79223853792238611E06931267
chr79224158592242488E06934315
chr79224265392242942E06935383
chr79224319892243276E06935928
chr79224336292243466E06936092
chr79224353092243580E06936260
chr79224382292244544E06936552
chr79224470292244752E06937432
chr79224492192244971E06937651
chr79224505392245127E06937783
chr79224531292245448E06938042
chr79224549992245584E06938229
chr79224558892245638E06938318
chr79225027892251282E06943008
chr79224531292245448E07038042
chr79224549992245584E07038229
chr79221379692214126E0716526
chr79221575892216105E0718488
chr79221615992216213E0718889
chr79221627092216374E0719000
chr79221682492216874E0719554
chr79221695492217049E0719684
chr79221708592217135E0719815
chr79221714692217196E0719876
chr79221733292217399E07110062
chr79222056492220784E07113294
chr79223865092238700E07131380
chr79223902492239074E07131754
chr79224158592242488E07134315
chr79224265392242942E07135383
chr79224319892243276E07135928
chr79224336292243466E07136092
chr79224353092243580E07136260
chr79224367592243715E07136405
chr79224382292244544E07136552
chr79224470292244752E07137432
chr79224492192244971E07137651
chr79224505392245127E07137783
chr79224531292245448E07138042
chr79225011592250190E07142845
chr79225027892251282E07143008
chr79225147992251660E07144209
chr79225167192251805E07144401
chr79225208292252273E07144812
chr79225229992252467E07145029
chr79225266892252752E07145398
chr79225277492253115E07145504
chr79216392392164003E072-43267
chr79216404892164147E072-43123
chr79219647792196827E072-10443
chr79221422092214288E0726950
chr79221431292214375E0727042
chr79221437892214565E0727108
chr79221575892216105E0728488
chr79221615992216213E0728889
chr79221627092216374E0729000
chr79221768592217738E07210415
chr79221780592217920E07210535
chr79222056492220784E07213294
chr79223853792238611E07231267
chr79224265392242942E07235383
chr79224319892243276E07235928
chr79224336292243466E07236092
chr79224353092243580E07236260
chr79224367592243715E07236405
chr79224382292244544E07236552
chr79224470292244752E07237432
chr79224492192244971E07237651
chr79224505392245127E07237783
chr79225027892251282E07243008
chr79218984692189963E073-17307
chr79221379692214126E0736526
chr79221422092214288E0736950
chr79221431292214375E0737042
chr79221437892214565E0737108
chr79221575892216105E0738488
chr79221615992216213E0738889
chr79221627092216374E0739000
chr79221768592217738E07310415
chr79221780592217920E07310535
chr79222056492220784E07313294
chr79224265392242942E07335383
chr79224319892243276E07335928
chr79224382292244544E07336552
chr79225027892251282E07343008
chr79216383492163874E074-43396
chr79216392392164003E074-43267
chr79216404892164147E074-43123
chr79221422092214288E0746950
chr79221431292214375E0747042
chr79221437892214565E0747108
chr79221575892216105E0748488
chr79221615992216213E0748889
chr79221627092216374E0749000
chr79221682492216874E0749554
chr79221695492217049E0749684
chr79221708592217135E0749815
chr79221714692217196E0749876
chr79221733292217399E07410062
chr79221768592217738E07410415
chr79221780592217920E07410535
chr79224158592242488E07434315
chr79224265392242942E07435383
chr79224319892243276E07435928
chr79224336292243466E07436092
chr79224353092243580E07436260
chr79224367592243715E07436405
chr79224382292244544E07436552
chr79224470292244752E07437432
chr79224492192244971E07437651
chr79224505392245127E07437783
chr79224531292245448E07438042
chr79225027892251282E07443008
chr79221780592217920E08110535
chr79221682492216874E0829554
chr79221695492217049E0829684
chr79221708592217135E0829815
chr79221714692217196E0829876
chr79221733292217399E08210062
chr79221768592217738E08210415
chr79221780592217920E08210535










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr79215872192158793E067-48477
chr79221849192218642E06711221
chr79221874392220015E06711473
chr79222003292220548E06712762
chr79223774692237818E06730476
chr79223791592238512E06730645
chr79215872192158793E068-48477
chr79221849192218642E06811221
chr79221874392220015E06811473
chr79222003292220548E06812762
chr79223774692237818E06830476
chr79223791592238512E06830645
chr79215872192158793E069-48477
chr79221849192218642E06911221
chr79221874392220015E06911473
chr79222003292220548E06912762
chr79215872192158793E070-48477
chr79221849192218642E07011221
chr79221874392220015E07011473
chr79222003292220548E07012762
chr79223791592238512E07030645
chr79215872192158793E071-48477
chr79221849192218642E07111221
chr79221874392220015E07111473
chr79222003292220548E07112762
chr79223774692237818E07130476
chr79223791592238512E07130645
chr79215872192158793E072-48477
chr79221849192218642E07211221
chr79221874392220015E07211473
chr79222003292220548E07212762
chr79223774692237818E07230476
chr79223791592238512E07230645
chr79215872192158793E073-48477
chr79221849192218642E07311221
chr79221874392220015E07311473
chr79222003292220548E07312762
chr79223791592238512E07330645
chr79215872192158793E074-48477
chr79221849192218642E07411221
chr79221874392220015E07411473
chr79222003292220548E07412762
chr79223774692237818E07430476
chr79223791592238512E07430645
chr79215872192158793E081-48477
chr79221849192218642E08111221
chr79221874392220015E08111473
chr79222003292220548E08112762
chr79215872192158793E082-48477
chr79221849192218642E08211221
chr79221874392220015E08211473
chr79222003292220548E08212762
chr79223791592238512E08230645