rs1031006

Homo sapiens
A>G
DNAH5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0399 (11939/29892,GnomAD)
G=0406 (11829/29118,TOPMED)
G=0438 (2192/5008,1000G)
G=0346 (1333/3854,ALSPAC)
G=0340 (1261/3708,TWINSUK)
chr5:13986994 (GRCh38.p7) (5p15.2)
ND
GWASdb2
2   publication(s)
See rs on genome
39 Enhancers around
20 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.13986994A>G
GRCh37.p13 chr 5NC_000005.9:g.13987103A>G

Gene: DNAH5, dynein axonemal heavy chain 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DNAH5 transcriptNM_001369.2:c.N/AGenic Upstream Transcript Variant
DNAH5 transcript variant X1XM_005248262.3:c.N/AIntron Variant
DNAH5 transcript variant X2XM_017009177.1:c.N/AIntron Variant
DNAH5 transcript variant X6XM_017009180.1:c.N/AIntron Variant
DNAH5 transcript variant X8XM_017009181.1:c.N/AIntron Variant
DNAH5 transcript variant X9XM_017009182.1:c.N/AIntron Variant
DNAH5 transcript variant X10XM_017009183.1:c.N/AIntron Variant
DNAH5 transcript variant X11XM_017009184.1:c.N/AIntron Variant
DNAH5 transcript variant X16XM_017009187.1:c.N/AIntron Variant
DNAH5 transcript variant X4XM_017009178.1:c.N/AGenic Upstream Transcript Variant
DNAH5 transcript variant X4XM_017009179.1:c.N/AGenic Upstream Transcript Variant
DNAH5 transcript variant X12XM_017009185.1:c.N/AGenic Upstream Transcript Variant
DNAH5 transcript variant X15XM_017009186.1:c.N/AGenic Upstream Transcript Variant
DNAH5 transcript variant X17XM_017009188.1:c.N/AGenic Upstream Transcript Variant
DNAH5 transcript variant X13XR_001742034.1:n.N/AIntron Variant
DNAH5 transcript variant X14XR_001742035.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.598G=0.402
1000GenomesAmericanSub694A=0.580G=0.420
1000GenomesEast AsianSub1008A=0.311G=0.689
1000GenomesEuropeSub1006A=0.643G=0.357
1000GenomesGlobalStudy-wide5008A=0.562G=0.438
1000GenomesSouth AsianSub978A=0.680G=0.320
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.654G=0.346
The Genome Aggregation DatabaseAfricanSub8680A=0.558G=0.442
The Genome Aggregation DatabaseAmericanSub838A=0.620G=0.380
The Genome Aggregation DatabaseEast AsianSub1618A=0.321G=0.679
The Genome Aggregation DatabaseEuropeSub18454A=0.643G=0.356
The Genome Aggregation DatabaseGlobalStudy-wide29892A=0.600G=0.399
The Genome Aggregation DatabaseOtherSub302A=0.670G=0.330
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.593G=0.406
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.660G=0.340
PMID Title Author Journal
19307444Examination of the nicotine dependence (NICSNP) consortium findings in the Iowa adoption studies population.Philibert RANicotine Tob Res
17158188Novel genes identified in a high-density genome wide association study for nicotine dependence.Bierut LJHum Mol Genet

P-Value

SNP ID p-value Traits Study
rs10310064.3E-05nicotine dependence17158188

eQTL of rs1031006 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 rs1031006 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 )
chr51401249514012545E06725392
chr51394341413943633E068-43470
chr51394499113945199E068-41904
chr51394522013945375E068-41728
chr51394586913946057E068-41046
chr51394630313946575E068-40528
chr51397757713977985E068-9118
chr51403551814035631E06848415
chr51394499113945199E069-41904
chr51394522013945375E069-41728
chr51394586913946057E069-41046
chr51394630313946575E069-40528
chr51394658413946778E069-40325
chr51394341413943633E070-43470
chr51394389913944049E070-43054
chr51394499113945199E070-41904
chr51394522013945375E070-41728
chr51394586913946057E070-41046
chr51394630313946575E070-40528
chr51394658413946778E070-40325
chr51394341413943633E081-43470
chr51394389913944049E081-43054
chr51394499113945199E081-41904
chr51394522013945375E081-41728
chr51394586913946057E081-41046
chr51394630313946575E081-40528
chr51394658413946778E081-40325
chr51395707813957128E081-29975
chr51395720013957502E081-29601
chr51401995614020362E08132853
chr51402048414020565E08133381
chr51403551814035631E08148415
chr51394499113945199E082-41904
chr51394522013945375E082-41728
chr51394586913946057E082-41046
chr51394630313946575E082-40528
chr51394658413946778E082-40325
chr51401692414017005E08229821
chr51401735014017413E08230247






Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr51401103814011116E06723935
chr51401115714012305E06724054
chr51401103814011116E06823935
chr51401115714012305E06824054
chr51401103814011116E06923935
chr51401115714012305E06924054
chr51401103814011116E07023935
chr51401115714012305E07024054
chr51401103814011116E07123935
chr51401115714012305E07124054
chr51401103814011116E07223935
chr51401115714012305E07224054
chr51401103814011116E07323935
chr51401115714012305E07324054
chr51401103814011116E07423935
chr51401115714012305E07424054
chr51401103814011116E08123935
chr51401115714012305E08124054
chr51401103814011116E08223935
chr51401115714012305E08224054