rs4508428

Homo sapiens
T>C
WWOX : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C=0239 (7154/29936,GnomAD)
C=0290 (8469/29118,TOPMED)
C=0318 (1591/5008,1000G)
C=0164 (631/3854,ALSPAC)
C=0157 (581/3708,TWINSUK)
chr16:78269369 (GRCh38.p7) (16q23.1)
ND
GWASdb2
1   publication(s)
See rs on genome
107 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 16NC_000016.10:g.78269369T>C
GRCh37.p13 chr 16NC_000016.9:g.78303266T>C
WWOX RefSeqGeneNG_011698.1:g.174716T>C

Gene: WWOX, WW domain containing oxidoreductase(plus strand)

Molecule type Change Amino acid[Codon] SO Term
WWOX transcript variant 4NM_001291997.1:c.N/AIntron Variant
WWOX transcript variant 1NM_016373.3:c.N/AIntron Variant
WWOX transcript variant 2NM_130791.3:c.N/AIntron Variant
WWOX transcript variant 5NR_120436.1:n.N/AIntron Variant
WWOX transcript variant 3NR_120435.1:n.N/AGenic Downstream Transcript Variant
WWOX transcript variant X1XM_011523101.2:c.N/AIntron Variant
WWOX transcript variant X2XM_011523103.2:c.N/AIntron Variant
WWOX transcript variant X3XM_011523104.2:c.N/AIntron Variant
WWOX transcript variant X4XM_017023278.1:c.N/AIntron Variant
WWOX transcript variant X6XM_017023279.1:c.N/AGenic Upstream Transcript Variant
WWOX transcript variant X5XM_011523105.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.545C=0.455
1000GenomesAmericanSub694T=0.850C=0.150
1000GenomesEast AsianSub1008T=0.682C=0.318
1000GenomesEuropeSub1006T=0.838C=0.162
1000GenomesGlobalStudy-wide5008T=0.682C=0.318
1000GenomesSouth AsianSub978T=0.590C=0.410
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.836C=0.164
The Genome Aggregation DatabaseAfricanSub8698T=0.579C=0.421
The Genome Aggregation DatabaseAmericanSub838T=0.870C=0.130
The Genome Aggregation DatabaseEast AsianSub1614T=0.683C=0.317
The Genome Aggregation DatabaseEuropeSub18484T=0.848C=0.151
The Genome Aggregation DatabaseGlobalStudy-wide29936T=0.761C=0.239
The Genome Aggregation DatabaseOtherSub302T=0.780C=0.220
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.709C=0.290
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.843C=0.157
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
rs45084280.0000102nicotine smoking19268276
rs45084280.000382nicotine smoking19268276

eQTL of rs4508428 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 rs4508428 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 )
chr167825991778260188E067-43078
chr167826063278260737E067-42529
chr167826086378261046E067-42220
chr167826478978265207E067-38059
chr167826907078269413E067-33853
chr167826958278269640E067-33626
chr167825946278259515E068-43751
chr167825991778260188E068-43078
chr167826063278260737E068-42529
chr167826086378261046E068-42220
chr167826478978265207E068-38059
chr167826552578265579E068-37687
chr167826559278265683E068-37583
chr167826907078269413E068-33853
chr167826958278269640E068-33626
chr167828556478285648E068-17618
chr167828582178285880E068-17386
chr167828598978286070E068-17196
chr167830984478309972E0686578
chr167832667978327247E06823413
chr167832728978327677E06824023
chr167835141678351562E06848150
chr167826063278260737E069-42529
chr167826086378261046E069-42220
chr167826447278264543E069-38723
chr167826478978265207E069-38059
chr167826907078269413E069-33853
chr167826958278269640E069-33626
chr167829127778291567E069-11699
chr167834414378344534E06940877
chr167835141678351562E06948150
chr167835165678352379E06948390
chr167826478978265207E070-38059
chr167826552578265579E070-37687
chr167826559278265683E070-37583
chr167832381778323943E07020551
chr167832399478324191E07020728
chr167832431178324432E07021045
chr167832443878324884E07021172
chr167825946278259515E071-43751
chr167825991778260188E071-43078
chr167826063278260737E071-42529
chr167826086378261046E071-42220
chr167826447278264543E071-38723
chr167826478978265207E071-38059
chr167826552578265579E071-37687
chr167826559278265683E071-37583
chr167826958278269640E071-33626
chr167827435778274768E071-28498
chr167830929378309815E0716027
chr167830984478309972E0716578
chr167831043078310480E0717164
chr167831111878312353E0717852
chr167831982978320009E07116563
chr167832728978327677E07124023
chr167835129678351346E07148030
chr167835141678351562E07148150
chr167825946278259515E072-43751
chr167825991778260188E072-43078
chr167826063278260737E072-42529
chr167826086378261046E072-42220
chr167826447278264543E072-38723
chr167826478978265207E072-38059
chr167826907078269413E072-33853
chr167826958278269640E072-33626
chr167827435778274768E072-28498
chr167827573678275949E072-27317
chr167827597178276204E072-27062
chr167827621278276501E072-26765
chr167827650478276645E072-26621
chr167831043078310480E0727164
chr167832667978327247E07223413
chr167832728978327677E07224023
chr167835129678351346E07248030
chr167835141678351562E07248150
chr167825991778260188E073-43078
chr167826063278260737E073-42529
chr167826478978265207E073-38059
chr167832586778325995E07322601
chr167832606178326542E07322795
chr167832667978327247E07323413
chr167835141678351562E07348150
chr167825946278259515E074-43751
chr167825991778260188E074-43078
chr167826063278260737E074-42529
chr167826086378261046E074-42220
chr167826447278264543E074-38723
chr167826478978265207E074-38059
chr167826552578265579E074-37687
chr167826559278265683E074-37583
chr167826907078269413E074-33853
chr167826958278269640E074-33626
chr167830929378309815E0746027
chr167830984478309972E0746578
chr167831043078310480E0747164
chr167832667978327247E07423413
chr167835141678351562E07448150
chr167831111878312353E0817852
chr167831258478312634E0819318
chr167831269078312769E0819424
chr167831982978320009E08116563
chr167832280978323280E08119543
chr167834399178344121E08140725
chr167834414378344534E08140877
chr167834464378344738E08141377
chr167831092678310985E0827660
chr167831111878312353E0827852