rs3816766

Homo sapiens
T>C
TTC17 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0047 (1415/29972,GnomAD)
C=0053 (1552/29118,TOPMED)
C=0063 (316/5008,1000G)
C=0049 (190/3854,ALSPAC)
C=0048 (179/3708,TWINSUK)
chr11:43427735 (GRCh38.p7) (11p11.2)
AD
GWASdb2
1   publication(s)
See rs on genome
2 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.43427735T>C
GRCh37.p13 chr 11NC_000011.9:g.43449285T>C

Gene: TTC17, tetratricopeptide repeat domain 17(plus strand)

Molecule type Change Amino acid[Codon] SO Term
TTC17 transcript variant 2NM_001307943.1:c.N/AIntron Variant
TTC17 transcript variant 1NM_018259.5:c.N/AIntron Variant
TTC17 transcript variant X1XM_005253016.1:c.N/AIntron Variant
TTC17 transcript variant X4XM_006718263.1:c.N/AIntron Variant
TTC17 transcript variant X2XM_011520218.2:c.N/AIntron Variant
TTC17 transcript variant X3XM_017018010.1:c.N/AIntron Variant
TTC17 transcript variant X5XR_001747925.1:n.N/AIntron Variant
TTC17 transcript variant X6XR_001747926.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.953C=0.047
1000GenomesAmericanSub694T=0.970C=0.030
1000GenomesEast AsianSub1008T=0.932C=0.068
1000GenomesEuropeSub1006T=0.953C=0.047
1000GenomesGlobalStudy-wide5008T=0.937C=0.063
1000GenomesSouth AsianSub978T=0.880C=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.951C=0.049
The Genome Aggregation DatabaseAfricanSub8730T=0.951C=0.049
The Genome Aggregation DatabaseAmericanSub838T=0.960C=0.040
The Genome Aggregation DatabaseEast AsianSub1618T=0.943C=0.057
The Genome Aggregation DatabaseEuropeSub18484T=0.954C=0.045
The Genome Aggregation DatabaseGlobalStudy-wide29972T=0.952C=0.047
The Genome Aggregation DatabaseOtherSub302T=0.940C=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.946C=0.053
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.952C=0.048
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
rs38167660.000249alcohol dependence21314694

eQTL of rs3816766 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 rs3816766 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 )
chr114342186743421947E071-27338
chr114342212343422177E071-27108