rs195411

Homo sapiens
A>G
TBC1D22B : 500B Downstream Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0013 (412/29980,GnomAD)
G=0022 (654/29118,TOPMED)
G=0016 (79/5008,1000G)
chr6:37333341 (GRCh38.p7) (6p21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
126 Enhancers around
18 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 6NC_000006.12:g.37333341A>G
GRCh37.p13 chr 6NC_000006.11:g.37301117A>G

Gene: TBC1D22B, TBC1 domain family member 22B(plus strand): 500B Downstream Variant

Molecule type Change Amino acid[Codon] SO Term
TBC1D22B transcript variant 1NM_017772.3:c.N/ADownstream Transcript Variant
TBC1D22B transcript variant 2NR_130108.1:n.N/ADownstream Transcript Variant
TBC1D22B transcript variant X1XM_011514738.2:c.N/AN/A
TBC1D22B transcript variant X2XM_011514739.1:c.N/AN/A
TBC1D22B transcript variant X5XR_241906.1:n.N/ADownstream Transcript Variant
TBC1D22B transcript variant X3XR_427833.1:n.N/ADownstream Transcript Variant
TBC1D22B transcript variant X4XR_926270.2:n.N/AN/A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.943G=0.057
1000GenomesAmericanSub694A=0.990G=0.010
1000GenomesEast AsianSub1008A=1.000G=0.000
1000GenomesEuropeSub1006A=1.000G=0.000
1000GenomesGlobalStudy-wide5008A=0.984G=0.016
1000GenomesSouth AsianSub978A=1.000G=0.000
The Genome Aggregation DatabaseAfricanSub8730A=0.954G=0.046
The Genome Aggregation DatabaseAmericanSub838A=0.990G=0.010
The Genome Aggregation DatabaseEast AsianSub1622A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18488A=0.999G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29980A=0.986G=0.013
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.977G=0.022
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
rs1954113.73E-05alcohol dependence21314694

eQTL of rs195411 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 rs195411 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 )
chr63725231037252450E067-48667
chr63727544537275916E067-25201
chr63727596137276195E067-24922
chr63727623137276322E067-24795
chr63727635337276480E067-24637
chr63727949837279922E067-21195
chr63728375437283804E067-17313
chr63728394937284133E067-16984
chr63728510737285748E067-15369
chr63733687737336927E06735760
chr63733773837337901E06736621
chr63733805537338121E06736938
chr63733899637339141E06737879
chr63734177337341874E06740656
chr63734201137342152E06740894
chr63725231037252450E068-48667
chr63725257237252677E068-48440
chr63727544537275916E068-25201
chr63727596137276195E068-24922
chr63727623137276322E068-24795
chr63727635337276480E068-24637
chr63727694537277063E068-24054
chr63728394937284133E068-16984
chr63728510737285748E068-15369
chr63728774237288172E068-12945
chr63728840937288506E068-12611
chr63728855537288674E068-12443
chr63728897337289194E068-11923
chr63728951737289792E068-11325
chr63729196537292401E068-8716
chr63732401037324054E06822893
chr63733687737336927E06835760
chr63733773837337901E06836621
chr63733805537338121E06836938
chr63725231037252450E069-48667
chr63725257237252677E069-48440
chr63725284637252910E069-48207
chr63727596137276195E069-24922
chr63727623137276322E069-24795
chr63727635337276480E069-24637
chr63727949837279922E069-21195
chr63727998337280295E069-20822
chr63728510737285748E069-15369
chr63733687737336927E06935760
chr63733773837337901E06936621
chr63733805537338121E06936938
chr63733899637339141E06937879
chr63733948237339532E06938365
chr63733958137339631E06938464
chr63733964237339692E06938525
chr63727544537275916E070-25201
chr63727596137276195E070-24922
chr63727623137276322E070-24795
chr63727635337276480E070-24637
chr63729123137291934E070-9183
chr63734177337341874E07040656
chr63734201137342152E07040894
chr63727596137276195E071-24922
chr63727623137276322E071-24795
chr63727635337276480E071-24637
chr63727949837279922E071-21195
chr63728510737285748E071-15369
chr63728840937288506E071-12611
chr63728855537288674E071-12443
chr63728951737289792E071-11325
chr63733460437334674E07133487
chr63733773837337901E07136621
chr63733805537338121E07136938
chr63733899637339141E07137879
chr63734177337341874E07140656
chr63734201137342152E07140894
chr63725257237252677E072-48440
chr63725284637252910E072-48207
chr63727623137276322E072-24795
chr63727635337276480E072-24637
chr63727949837279922E072-21195
chr63727998337280295E072-20822
chr63728510737285748E072-15369
chr63729123137291934E072-9183
chr63733345137333589E07232334
chr63733362937333794E07232512
chr63733687737336927E07235760
chr63733773837337901E07236621
chr63733805537338121E07236938
chr63733948237339532E07238365
chr63725231037252450E073-48667
chr63725257237252677E073-48440
chr63725284637252910E073-48207
chr63728510737285748E073-15369
chr63732401037324054E07322893
chr63733773837337901E07336621
chr63733805537338121E07336938
chr63733899637339141E07337879
chr63733948237339532E07338365
chr63733958137339631E07338464
chr63733964237339692E07338525
chr63725231037252450E074-48667
chr63725257237252677E074-48440
chr63725284637252910E074-48207
chr63727596137276195E074-24922
chr63727623137276322E074-24795
chr63727635337276480E074-24637
chr63727949837279922E074-21195
chr63728510737285748E074-15369
chr63733687737336927E07435760
chr63733773837337901E07436621
chr63733805537338121E07436938
chr63733899637339141E07437879
chr63733948237339532E07438365
chr63733958137339631E07438464
chr63733964237339692E07438525
chr63734177337341874E07440656
chr63734201137342152E07440894
chr63727544537275916E081-25201
chr63727596137276195E081-24922
chr63727623137276322E081-24795
chr63727635337276480E081-24637
chr63727694537277063E081-24054
chr63728375437283804E081-17313
chr63728394937284133E081-16984
chr63727623137276322E082-24795
chr63727635337276480E082-24637
chr63727694537277063E082-24054
chr63729123137291934E082-9183
chr63729196537292401E082-8716
chr63732401037324054E08222893










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr63732115837321250E06720041
chr63732130337322855E06720186
chr63732115837321250E06820041
chr63732130337322855E06820186
chr63732115837321250E06920041
chr63732130337322855E06920186
chr63732130337322855E07020186
chr63732115837321250E07120041
chr63732130337322855E07120186
chr63732115837321250E07220041
chr63732130337322855E07220186
chr63732115837321250E07320041
chr63732130337322855E07320186
chr63732115837321250E07420041
chr63732130337322855E07420186
chr63732115837321250E08120041
chr63732130337322855E08120186
chr63732130337322855E08220186