rs12346176

Homo sapiens
A>C / A>G
DOCK8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0321 (9606/29892,GnomAD)
G=0374 (10900/29118,TOPMED)
G=0297 (1489/5008,1000G)
G=0312 (1201/3854,ALSPAC)
G=0306 (1135/3708,TWINSUK)
chr9:398673 (GRCh38.p7) (9p24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.398673A>C
GRCh38.p7 chr 9NC_000009.12:g.398673A>G
GRCh37.p13 chr 9NC_000009.11:g.398673A>C
GRCh37.p13 chr 9NC_000009.11:g.398673A>G
DOCK8 RefSeqGene LRG_196
DOCK8 RefSeqGene LRG_196

Gene: DOCK8, dedicator of cytokinesis 8(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DOCK8 transcript variant 2NM_001190458.1:c.N/AIntron Variant
DOCK8 transcript variant 3NM_001193536.1:c.N/AIntron Variant
DOCK8 transcript variant 1NM_203447.3:c.N/AIntron Variant
DOCK8 transcript variant X2XM_011518045.2:c.N/AIntron Variant
DOCK8 transcript variant X3XM_011518046.2:c.N/AIntron Variant
DOCK8 transcript variant X5XM_011518047.2:c.N/AIntron Variant
DOCK8 transcript variant X6XM_011518048.2:c.N/AIntron Variant
DOCK8 transcript variant X7XM_011518049.2:c.N/AIntron Variant
DOCK8 transcript variant X1XM_017015173.1:c.N/AIntron Variant
DOCK8 transcript variant X4XM_017015174.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.542G=0.458
1000GenomesAmericanSub694A=0.710G=0.290
1000GenomesEast AsianSub1008A=0.898G=0.102
1000GenomesEuropeSub1006A=0.693G=0.307
1000GenomesGlobalStudy-wide5008A=0.703G=0.297
1000GenomesSouth AsianSub978A=0.720G=0.280
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.688G=0.312
The Genome Aggregation DatabaseAfricanSub8702A=0.558C=0.000
The Genome Aggregation DatabaseAmericanSub832A=0.750C=0.00,
The Genome Aggregation DatabaseEast AsianSub1622A=0.932C=0.001
The Genome Aggregation DatabaseEuropeSub18434A=0.709C=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29892A=0.678C=0.000
The Genome Aggregation DatabaseOtherSub302A=0.750C=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.625G=0.374
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.694G=0.306
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
rs123461760.00066alcohol dependence21314694

eQTL of rs12346176 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 rs12346176 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 )
chr92482701424827393E08142875
chr92482786624827920E08143727
chr92482796024828015E08143821