rs7166775

Homo sapiens
G>A
TTBK2 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0412 (12265/29760,GnomAD)
A=0497 (14478/29118,TOPMED)
A=0460 (2302/5008,1000G)
A=0225 (868/3854,ALSPAC)
A=0221 (819/3708,TWINSUK)
chr15:42750492 (GRCh38.p7) (15q15.2)
AD
GWASdb2
1   publication(s)
See rs on genome
99 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.42750492G>A
GRCh37.p13 chr 15NC_000015.9:g.43042690G>A
TTBK2 RefSeqGeneNG_012664.1:g.175318C>T

Gene: TTBK2, tau tubulin kinase 2(minus strand)

Molecule type Change Amino acid[Codon] SO Term
TTBK2 transcriptNM_173500.3:c.N/AIntron Variant
TTBK2 transcript variant X1XM_005254171.4:c.N/AIntron Variant
TTBK2 transcript variant X4XM_005254173.4:c.N/AIntron Variant
TTBK2 transcript variant X2XM_006720402.3:c.N/AIntron Variant
TTBK2 transcript variant X3XM_006720403.3:c.N/AIntron Variant
TTBK2 transcript variant X5XM_017021950.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.045A=0.955
1000GenomesAmericanSub694G=0.810A=0.190
1000GenomesEast AsianSub1008G=0.747A=0.253
1000GenomesEuropeSub1006G=0.761A=0.239
1000GenomesGlobalStudy-wide5008G=0.540A=0.460
1000GenomesSouth AsianSub978G=0.580A=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.775A=0.225
The Genome Aggregation DatabaseAfricanSub8700G=0.163A=0.837
The Genome Aggregation DatabaseAmericanSub834G=0.830A=0.170
The Genome Aggregation DatabaseEast AsianSub1610G=0.762A=0.238
The Genome Aggregation DatabaseEuropeSub18314G=0.762A=0.237
The Genome Aggregation DatabaseGlobalStudy-wide29760G=0.587A=0.412
The Genome Aggregation DatabaseOtherSub302G=0.660A=0.340
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.502A=0.497
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.779A=0.221
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
rs71667750.000626alcohol dependence21314694

eQTL of rs7166775 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr15:43042690CDAN1ENSG00000140326.8G>A3.8238e-913366Cerebellum

meQTL of rs7166775 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 )
chr154301928443019340E067-23350
chr154301979743020019E067-22671
chr154302004243020199E067-22491
chr154302020443020422E067-22268
chr154302046943020519E067-22171
chr154302084643021001E067-21689
chr154302706243027228E067-15462
chr154302726143027305E067-15385
chr154302735843027506E067-15184
chr154302762243027761E067-14929
chr154302780543027893E067-14797
chr154306607543066198E06723385
chr154306622543066284E06723535
chr154302762243027761E068-14929
chr154302780543027893E068-14797
chr154306583343065873E06823143
chr154306607543066198E06823385
chr154306622543066284E06823535
chr154301928443019340E069-23350
chr154301979743020019E069-22671
chr154302004243020199E069-22491
chr154302020443020422E069-22268
chr154302046943020519E069-22171
chr154302084643021001E069-21689
chr154302780543027893E069-14797
chr154306443743064698E06921747
chr154306476243064829E06922072
chr154302706243027228E070-15462
chr154302726143027305E070-15385
chr154302735843027506E070-15184
chr154302762243027761E070-14929
chr154302004243020199E071-22491
chr154302020443020422E071-22268
chr154302046943020519E071-22171
chr154302084643021001E071-21689
chr154302762243027761E071-14929
chr154302780543027893E071-14797
chr154303013443030322E071-12368
chr154306401443064077E07121324
chr154306443743064698E07121747
chr154306622543066284E07123535
chr154299662942997030E072-45660
chr154299706442997252E072-45438
chr154301979743020019E072-22671
chr154302004243020199E072-22491
chr154302020443020422E072-22268
chr154302046943020519E072-22171
chr154302084643021001E072-21689
chr154302127943021399E072-21291
chr154302147943021713E072-20977
chr154302178243021842E072-20848
chr154302195143022005E072-20685
chr154306443743064698E07221747
chr154306607543066198E07223385
chr154306622543066284E07223535
chr154301882143018898E073-23792
chr154301928443019340E073-23350
chr154301979743020019E073-22671
chr154302004243020199E073-22491
chr154302020443020422E073-22268
chr154302046943020519E073-22171
chr154302616843026229E073-16461
chr154302636043026480E073-16210
chr154302653443026638E073-16052
chr154302664043026696E073-15994
chr154302670343026761E073-15929
chr154302700943027059E073-15631
chr154302706243027228E073-15462
chr154302726143027305E073-15385
chr154302735843027506E073-15184
chr154302762243027761E073-14929
chr154302780543027893E073-14797
chr154305116843051387E0738478
chr154305141143051630E0738721
chr154306283243063015E07320142
chr154302020443020422E074-22268
chr154302046943020519E074-22171
chr154306401443064077E07421324
chr154306443743064698E07421747
chr154306476243064829E07422072
chr154302762243027761E081-14929
chr154302780543027893E081-14797
chr154306283243063015E08120142
chr154306305143063176E08120361
chr154306330343063343E08120613
chr154306354543063639E08120855
chr154306366743063733E08120977
chr154306401443064077E08121324
chr154306443743064698E08121747
chr154306583343065873E08123143
chr154306607543066198E08123385
chr154306622543066284E08123535
chr154307538943075445E08132699
chr154307551143075565E08132821
chr154307699643077163E08134306
chr154307721543077255E08134525
chr154302762243027761E082-14929
chr154302780543027893E082-14797
chr154306401443064077E08221324










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr154302835143030099E067-12591
chr154302835143030099E068-12591
chr154302835143030099E069-12591
chr154302835143030099E070-12591
chr154302835143030099E071-12591
chr154302835143030099E072-12591
chr154302835143030099E073-12591
chr154302835143030099E074-12591
chr154302835143030099E081-12591
chr154302835143030099E082-12591