rs16947824

Homo sapiens
G>A
DDX5 : Intron Variant
CEP95 : 2KB Upstream Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0048 (1455/29936,GnomAD)
A=0041 (1213/29118,TOPMED)
A=0048 (240/5008,1000G)
A=0035 (135/3854,ALSPAC)
A=0036 (135/3708,TWINSUK)
chr17:64505387 (GRCh38.p7) (17q23.3)
ND
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.64505387G>A
GRCh37.p13 chr 17 fix patch HG183_PATCHNW_003315947.1:g.309234G>A
GRCh37.p13 chr 17NC_000017.10:g.62501505G>A

Gene: DDX5, DEAD-box helicase 5(minus strand)

Molecule type Change Amino acid[Codon] SO Term
DDX5 transcript variant 1NM_001320595.1:c.N/AIntron Variant
DDX5 transcript variant 3NM_001320596.1:c.N/AIntron Variant
DDX5 transcript variant 4NM_001320597.1:c.N/AIntron Variant
DDX5 transcript variant 2NM_004396.4:c.N/AIntron Variant

Gene: CEP95, centrosomal protein 95(plus strand): 2KB Upstream Variant

Molecule type Change Amino acid[Codon] SO Term
CEP95 transcript variant 2NM_001316990.1:c.N/AUpstream Transcript Variant
CEP95 transcript variant 1NM_138363.2:c.N/AUpstream Transcript Variant
CEP95 transcript variant 3NR_133644.1:n.N/AUpstream Transcript Variant
CEP95 transcript variant X1XM_005257779.3:c.N/AUpstream Transcript Variant
CEP95 transcript variant X4XM_005257780.2:c.N/AUpstream Transcript Variant
CEP95 transcript variant X4XM_006722166.3:c.N/AUpstream Transcript Variant
CEP95 transcript variant X9XM_011525458.2:c.N/AUpstream Transcript Variant
CEP95 transcript variant X3XM_017025287.1:c.N/AUpstream Transcript Variant
CEP95 transcript variant X5XM_017025288.1:c.N/AUpstream Transcript Variant
CEP95 transcript variant X7XR_001752675.1:n.N/AUpstream Transcript Variant
CEP95 transcript variant X7XR_001752676.1:n.N/AUpstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.960A=0.040
1000GenomesAmericanSub694G=0.870A=0.130
1000GenomesEast AsianSub1008G=0.973A=0.027
1000GenomesEuropeSub1006G=0.962A=0.038
1000GenomesGlobalStudy-wide5008G=0.952A=0.048
1000GenomesSouth AsianSub978G=0.970A=0.030
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.965A=0.035
The Genome Aggregation DatabaseAfricanSub8702G=0.960A=0.040
The Genome Aggregation DatabaseAmericanSub836G=0.870A=0.130
The Genome Aggregation DatabaseEast AsianSub1622G=0.967A=0.033
The Genome Aggregation DatabaseEuropeSub18474G=0.949A=0.050
The Genome Aggregation DatabaseGlobalStudy-wide29936G=0.951A=0.048
The Genome Aggregation DatabaseOtherSub302G=0.960A=0.040
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.958A=0.041
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.964A=0.036
PMID Title Author Journal
20158304A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.Lind PATwin Res Hum Genet

P-Value

SNP ID p-value Traits Study
rs169478240.00000793alcohol and nictotine co-dependence20158304
rs169478240.0000143alcohol dependence20158304

eQTL of rs16947824 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 rs16947824 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 )
chr17261323261907E067-47327
chr17261981262046E067-47188
chr17261323261907E068-47327
chr17261981262046E068-47188
chr17261323261907E069-47327
chr17261981262046E069-47188
chr17261323261907E070-47327
chr17277534277610E070-31624
chr17277649277834E070-31400
chr17261323261907E071-47327
chr17261981262046E071-47188
chr17261323261907E072-47327
chr17261981262046E072-47188
chr17261323261907E073-47327
chr17261981262046E073-47188
chr17261323261907E074-47327
chr17261323261907E081-47327
chr17261981262046E081-47188
chr17272060272344E081-36890
chr17261981262046E082-47188










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr17259319261194E067-48040
chr17259319261194E068-48040
chr17259319261194E069-48040
chr17259319261194E070-48040
chr17259319261194E071-48040
chr17259319261194E072-48040
chr17259319261194E073-48040
chr17259319261194E074-48040
chr17259319261194E081-48040
chr17259319261194E082-48040