rs7608232

Homo sapiens
C>A
TBC1D8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0117 (3506/29978,GnomAD)
C==0098 (2874/29116,TOPMED)
C==0124 (620/5008,1000G)
C==0129 (497/3854,ALSPAC)
C==0137 (507/3708,TWINSUK)
chr2:101082601 (GRCh38.p7) (2q11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
102 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.101082601C>A
GRCh37.p13 chr 2NC_000002.11:g.101699063C>A

Gene: TBC1D8, TBC1 domain family member 8(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TBC1D8 transcriptNM_001102426.1:c.N/AIntron Variant
TBC1D8 transcript variant X1XM_005263862.3:c.N/AIntron Variant
TBC1D8 transcript variant X2XM_005263863.4:c.N/AIntron Variant
TBC1D8 transcript variant X3XM_005263864.3:c.N/AIntron Variant
TBC1D8 transcript variant X4XM_011510507.1:c.N/AIntron Variant
TBC1D8 transcript variant X8XM_011510508.2:c.N/AIntron Variant
TBC1D8 transcript variant X5XM_017003198.1:c.N/AIntron Variant
TBC1D8 transcript variant X6XM_017003199.1:c.N/AIntron Variant
TBC1D8 transcript variant X7XM_017003200.1:c.N/AIntron Variant
TBC1D8 transcript variant X9XM_017003201.1:c.N/AIntron Variant
TBC1D8 transcript variant X10XM_017003202.1:c.N/AIntron Variant
TBC1D8 transcript variant X11XR_001738594.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.032A=0.968
1000GenomesAmericanSub694C=0.050A=0.950
1000GenomesEast AsianSub1008C=0.221A=0.779
1000GenomesEuropeSub1006C=0.119A=0.881
1000GenomesGlobalStudy-wide5008C=0.124A=0.876
1000GenomesSouth AsianSub978C=0.200A=0.800
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.129A=0.871
The Genome Aggregation DatabaseAfricanSub8730C=0.050A=0.950
The Genome Aggregation DatabaseAmericanSub838C=0.050A=0.950
The Genome Aggregation DatabaseEast AsianSub1614C=0.240A=0.760
The Genome Aggregation DatabaseEuropeSub18494C=0.140A=0.859
The Genome Aggregation DatabaseGlobalStudy-wide29978C=0.117A=0.883
The Genome Aggregation DatabaseOtherSub302C=0.140A=0.860
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.098A=0.901
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.137A=0.863
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
rs76082320.000609alcohol dependence21314694

eQTL of rs7608232 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 rs7608232 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 )
chr2101681244101682023E067-17040
chr2101722435101722485E06723372
chr2101723030101723317E06723967
chr2101723543101723599E06724480
chr2101725779101725872E06726716
chr2101725957101726959E06726894
chr2101727008101727150E06727945
chr2101735894101736198E06736831
chr2101736223101736317E06737160
chr2101736718101736858E06737655
chr2101736967101737591E06737904
chr2101740294101740931E06741231
chr2101740974101742671E06741911
chr2101679886101680166E068-18897
chr2101680287101680556E068-18507
chr2101680605101680717E068-18346
chr2101681244101682023E068-17040
chr2101725779101725872E06826716
chr2101725957101726959E06826894
chr2101727008101727150E06827945
chr2101727779101727827E06828716
chr2101727891101728876E06828828
chr2101728880101729103E06829817
chr2101729735101731112E06830672
chr2101733386101733426E06834323
chr2101733480101733540E06834417
chr2101733751101733999E06834688
chr2101734422101734601E06835359
chr2101734700101734750E06835637
chr2101736223101736317E06837160
chr2101736718101736858E06837655
chr2101736967101737591E06837904
chr2101740294101740931E06841231
chr2101681244101682023E069-17040
chr2101725779101725872E06926716
chr2101725957101726959E06926894
chr2101735377101735436E06936314
chr2101735894101736198E06936831
chr2101736223101736317E06937160
chr2101736718101736858E06937655
chr2101736967101737591E06937904
chr2101740294101740931E06941231
chr2101740974101742671E06941911
chr2101680287101680556E071-18507
chr2101680605101680717E071-18346
chr2101681244101682023E071-17040
chr2101723030101723317E07123967
chr2101725957101726959E07126894
chr2101727008101727150E07127945
chr2101727779101727827E07128716
chr2101727891101728876E07128828
chr2101728880101729103E07129817
chr2101731247101731650E07132184
chr2101731798101731882E07132735
chr2101735894101736198E07136831
chr2101736223101736317E07137160
chr2101736718101736858E07137655
chr2101736967101737591E07137904
chr2101740294101740931E07141231
chr2101723030101723317E07223967
chr2101725779101725872E07226716
chr2101725957101726959E07226894
chr2101727008101727150E07227945
chr2101727891101728876E07228828
chr2101728880101729103E07229817
chr2101735894101736198E07236831
chr2101736223101736317E07237160
chr2101736718101736858E07237655
chr2101736967101737591E07237904
chr2101737598101738051E07238535
chr2101723030101723317E07323967
chr2101725779101725872E07326716
chr2101725957101726959E07326894
chr2101727008101727150E07327945
chr2101728880101729103E07329817
chr2101729222101729569E07330159
chr2101731247101731650E07332184
chr2101735894101736198E07336831
chr2101736223101736317E07337160
chr2101736718101736858E07337655
chr2101736967101737591E07337904
chr2101739988101740040E07340925
chr2101740294101740931E07341231
chr2101740974101742671E07341911
chr2101680605101680717E074-18346
chr2101681244101682023E074-17040
chr2101723030101723317E07423967
chr2101723543101723599E07424480
chr2101727891101728876E07428828
chr2101728880101729103E07429817
chr2101729222101729569E07430159
chr2101731247101731650E07432184
chr2101735894101736198E07436831
chr2101736223101736317E07437160
chr2101736718101736858E07437655
chr2101736967101737591E07437904
chr2101737598101738051E07438535
chr2101725779101725872E08126716
chr2101725957101726959E08126894
chr2101727008101727150E08127945
chr2101725779101725872E08226716
chr2101725957101726959E08226894