rs4608580

Homo sapiens
C>T
VWA3B : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0432 (12907/29876,GnomAD)
C==0330 (1655/5008,1000G)
C==0470 (1810/3854,ALSPAC)
C==0456 (1692/3708,TWINSUK)
chr2:98244594 (GRCh38.p7) (2q11.2)
ND
GWASdb2
1   publication(s)
See rs on genome
6 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 2NC_000002.12:g.98244594C>T
GRCh37.p13 chr 2NC_000002.11:g.98861057C>T

Gene: VWA3B, von Willebrand factor A domain containing 3B(plus strand)

Molecule type Change Amino acid[Codon] SO Term
VWA3B transcript variant 1NM_144992.4:c.N/AIntron Variant
VWA3B transcript variant X1XM_005263897.2:c.N/AIntron Variant
VWA3B transcript variant X7XM_006712357.2:c.N/AIntron Variant
VWA3B transcript variant X13XM_006712359.3:c.N/AIntron Variant
VWA3B transcript variant X15XM_006712360.3:c.N/AIntron Variant
VWA3B transcript variant X4XM_011510770.1:c.N/AIntron Variant
VWA3B transcript variant X5XM_011510771.2:c.N/AIntron Variant
VWA3B transcript variant X6XM_011510772.1:c.N/AIntron Variant
VWA3B transcript variant X8XM_017003560.1:c.N/AIntron Variant
VWA3B transcript variant X9XM_017003561.1:c.N/AIntron Variant
VWA3B transcript variant X10XM_017003562.1:c.N/AIntron Variant
VWA3B transcript variant X11XM_017003563.1:c.N/AIntron Variant
VWA3B transcript variant X11XM_017003564.1:c.N/AIntron Variant
VWA3B transcript variant X12XM_011510774.1:c.N/AGenic Downstream Transcript Variant
VWA3B transcript variant X14XM_011510775.2:c.N/AGenic Downstream Transcript Variant
VWA3B transcript variant X16XR_244881.1:n.N/AIntron Variant
VWA3B transcript variant X2XR_922884.1:n.N/AIntron Variant
VWA3B transcript variant X3XR_922885.2:n.N/AIntron Variant
VWA3B transcript variant X15XR_922887.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.365T=0.635
1000GenomesAmericanSub694C=0.500T=0.500
1000GenomesEast AsianSub1008C=0.202T=0.798
1000GenomesEuropeSub1006C=0.456T=0.544
1000GenomesGlobalStudy-wide5008C=0.330T=0.670
1000GenomesSouth AsianSub978C=0.160T=0.840
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.470T=0.530
The Genome Aggregation DatabaseAfricanSub8678C=0.375T=0.625
The Genome Aggregation DatabaseAmericanSub830C=0.520T=0.480
The Genome Aggregation DatabaseEast AsianSub1614C=0.205T=0.795
The Genome Aggregation DatabaseEuropeSub18452C=0.476T=0.523
The Genome Aggregation DatabaseGlobalStudy-wide29876C=0.432T=0.568
The Genome Aggregation DatabaseOtherSub302C=0.330T=0.670
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.456T=0.544
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
rs46085807.91E-05nicotine smoking19268276

eQTL of rs4608580 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 rs4608580 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 )
chr29886993498870260E0678877
chr29885739698857796E068-3261
chr29885739698857796E069-3261
chr29882865698828708E070-32349
chr29885739698857796E070-3261
chr29886891098869148E0707853
chr29886993498870260E0708877
chr29889371098894215E07032653
chr29885739698857796E071-3261
chr29885074298850851E072-10206
chr29885138198851518E072-9539
chr29885739698857796E072-3261
chr29885074298850851E074-10206
chr29882846198828545E081-32512
chr29882865698828708E081-32349
chr29886891098869148E0817853
chr29886993498870260E0818877
chr29882865698828708E082-32349
chr29886891098869148E0827853
chr29886993498870260E0828877









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr29885854098858821E067-2236
chr29885854098858821E068-2236
chr29885854098858821E069-2236
chr29885854098858821E071-2236
chr29885854098858821E072-2236
chr29885854098858821E074-2236