rs7227328

Homo sapiens
G>A / G>C
DOK6 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0106 (3177/29956,GnomAD)
G==0162 (4732/29118,TOPMED)
G==0130 (653/5008,1000G)
G==0006 (23/3854,ALSPAC)
G==0005 (20/3708,TWINSUK)
chr18:69822648 (GRCh38.p7) (18q22.2)
ND
GWASdb2
1   publication(s)
See rs on genome
29 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.69822648G>A
GRCh38.p7 chr 18NC_000018.10:g.69822648G>C
GRCh37.p13 chr 18NC_000018.9:g.67489884G>A
GRCh37.p13 chr 18NC_000018.9:g.67489884G>C

Gene: DOK6, docking protein 6(plus strand)

Molecule type Change Amino acid[Codon] SO Term
DOK6 transcriptNM_152721.5:c.N/AIntron Variant
DOK6 transcript variant X1XM_011525875.2:c.N/AIntron Variant
DOK6 transcript variant X2XM_017025610.1:c.N/AIntron Variant
DOK6 transcript variant X3XM_017025611.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.357C=0.643
1000GenomesAmericanSub694G=0.090C=0.910
1000GenomesEast AsianSub1008G=0.079C=0.921
1000GenomesEuropeSub1006G=0.008C=0.992
1000GenomesGlobalStudy-wide5008G=0.130C=0.870
1000GenomesSouth AsianSub978G=0.030C=0.970
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.006C=0.994
The Genome Aggregation DatabaseAfricanSub8710G=0.320A=0.000
The Genome Aggregation DatabaseAmericanSub838G=0.120A=0.00,
The Genome Aggregation DatabaseEast AsianSub1618G=0.091A=0.001
The Genome Aggregation DatabaseEuropeSub18488G=0.007A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29956G=0.106A=0.000
The Genome Aggregation DatabaseOtherSub302G=0.000A=0.00,
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.162C=0.837
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.005C=0.995
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs72273280.000566nicotine smoking19268276

eQTL of rs7227328 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 rs7227328 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 )
chr182530371625303813E06718887
chr182530399125304041E06719162
chr182524209225242546E069-42283
chr182524258625242707E069-42122
chr182524071925240823E070-44006
chr182524135125242019E070-42810
chr182524209225242546E070-42283
chr182529276425294322E0707935
chr182532812725328188E07043298
chr182532841425328519E07043585
chr182532860325328653E07043774
chr182532874625328841E07043917
chr182532930025329466E07044471
chr182532957025329834E07044741
chr182532995925330311E07045130
chr182533037925330452E07045550
chr182533202525332075E07047196
chr182533233125332375E07047502
chr182533364125333691E07048812
chr182533377325333823E07048944
chr182524135125242019E071-42810
chr182524209225242546E071-42283
chr182524135125242019E072-42810
chr182524209225242546E072-42283
chr182524258625242707E072-42122
chr182524135125242019E074-42810
chr182524209225242546E074-42283
chr182529181925291945E0826990
chr182529198925292430E0827160