rs6084496

Homo sapiens
C>T
MAVS : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0070 (2102/29972,GnomAD)
T=0081 (2363/29118,TOPMED)
T=0095 (477/5008,1000G)
T=0034 (131/3854,ALSPAC)
T=0029 (107/3708,TWINSUK)
chr20:3849815 (GRCh38.p7) (20p13)
ND
GWASdb2
1   publication(s)
See rs on genome
252 Enhancers around
29 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.3849815C>T
GRCh37.p13 chr 20NC_000020.10:g.3830462C>T
MAVS RefSeqGeneNG_030028.1:g.8017C>T

Gene: MAVS, mitochondrial antiviral signaling protein(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MAVS transcript variant 3NM_001206491.1:c.N/AIntron Variant
MAVS transcript variant 1NM_020746.4:c.N/AIntron Variant
MAVS transcript variant 2NR_037921.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.837T=0.163
1000GenomesAmericanSub694C=0.970T=0.030
1000GenomesEast AsianSub1008C=0.863T=0.137
1000GenomesEuropeSub1006C=0.962T=0.038
1000GenomesGlobalStudy-wide5008C=0.905T=0.095
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.966T=0.034
The Genome Aggregation DatabaseAfricanSub8724C=0.866T=0.134
The Genome Aggregation DatabaseAmericanSub838C=0.970T=0.030
The Genome Aggregation DatabaseEast AsianSub1616C=0.879T=0.121
The Genome Aggregation DatabaseEuropeSub18492C=0.962T=0.037
The Genome Aggregation DatabaseGlobalStudy-wide29972C=0.929T=0.070
The Genome Aggregation DatabaseOtherSub302C=0.950T=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.918T=0.081
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.971T=0.029
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
rs60844966.79E-06alcohol and nictotine co-dependence20158304

eQTL of rs6084496 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 rs6084496 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 )
chr2037831243783298E067-47164
chr2037833193783437E067-47025
chr2037834513783505E067-46957
chr2037835493783683E067-46779
chr2037837223783772E067-46690
chr2037863383786400E067-44062
chr2037864013786534E067-43928
chr2037873503789404E067-41058
chr2037982033798294E067-32168
chr2037983543798446E067-32016
chr2037988123799885E067-30577
chr2037999233800053E067-30409
chr2038260403826516E067-3946
chr2038290563829461E067-1001
chr2038295733829641E067-821
chr2038733463873562E06742884
chr2038735883873679E06743126
chr2038736893873846E06743227
chr2038738613873947E06743399
chr2038740023874547E06743540
chr2038775393877807E06747077
chr2038778623877915E06747400
chr2037829723783027E068-47435
chr2037830393783101E068-47361
chr2037831243783298E068-47164
chr2037833193783437E068-47025
chr2037834513783505E068-46957
chr2037835493783683E068-46779
chr2037837223783772E068-46690
chr2037864013786534E068-43928
chr2037865593787118E068-43344
chr2037872313787306E068-43156
chr2037873503789404E068-41058
chr2037916193791669E068-38793
chr2037935633794687E068-35775
chr2037988123799885E068-30577
chr2038048003804850E068-25612
chr2038049033805123E068-25339
chr2038051843805248E068-25214
chr2038290563829461E068-1001
chr2038550123855125E06824550
chr2038561013856257E06825639
chr2038563343856966E06825872
chr2038662793866332E06835817
chr2038663383866408E06835876
chr2038664623866622E06836000
chr2038727573872815E06842295
chr2038730123873157E06842550
chr2038731933873290E06842731
chr2038733463873562E06842884
chr2038735883873679E06843126
chr2038736893873846E06843227
chr2038738613873947E06843399
chr2038740023874547E06843540
chr2038746923874752E06844230
chr2038755383875613E06845076
chr2038756713875774E06845209
chr2038769993877232E06846537
chr2038773663877410E06846904
chr2038775393877807E06847077
chr2038778623877915E06847400
chr2038780373878127E06847575
chr2038782793878340E06847817
chr2038801413880336E06849679
chr2037831243783298E069-47164
chr2037833193783437E069-47025
chr2037834513783505E069-46957
chr2037835493783683E069-46779
chr2037837223783772E069-46690
chr2037865593787118E069-43344
chr2037872313787306E069-43156
chr2037873503789404E069-41058
chr2037916193791669E069-38793
chr2037935633794687E069-35775
chr2037988123799885E069-30577
chr2037999233800053E069-30409
chr2038290563829461E069-1001
chr2038563343856966E06925872
chr2038663383866408E06935876
chr2038664623866622E06936000
chr2038727573872815E06942295
chr2038733463873562E06942884
chr2038736893873846E06943227
chr2038740023874547E06943540
chr2038746923874752E06944230
chr2038773663877410E06946904
chr2038775393877807E06947077
chr2038778623877915E06947400
chr2038780373878127E06947575
chr2038792523879296E06948790
chr2038793633879611E06948901
chr2037843673784417E070-46045
chr2037844763784594E070-45868
chr2037846143784668E070-45794
chr2037847503784799E070-45663
chr2037873503789404E070-41058
chr2037935633794687E070-35775
chr2037955603795662E070-34800
chr2037957933796131E070-34331
chr2038025593802839E070-27623
chr2038028493802908E070-27554
chr2038561013856257E07025639
chr2038563343856966E07025872
chr2038570233857083E07026561
chr2038662793866332E07035817
chr2038663383866408E07035876
chr2038664623866622E07036000
chr2038727573872815E07042295
chr2038773663877410E07046904
chr2038775393877807E07047077
chr2038778623877915E07047400
chr2038780373878127E07047575
chr2038782793878340E07047817
chr2037829723783027E071-47435
chr2037830393783101E071-47361
chr2037831243783298E071-47164
chr2037833193783437E071-47025
chr2037834513783505E071-46957
chr2037835493783683E071-46779
chr2037837223783772E071-46690
chr2037838853783983E071-46479
chr2037863383786400E071-44062
chr2037864013786534E071-43928
chr2037865593787118E071-43344
chr2037872313787306E071-43156
chr2037908903791188E071-39274
chr2037916193791669E071-38793
chr2037935633794687E071-35775
chr2037988123799885E071-30577
chr2037999233800053E071-30409
chr2038290563829461E071-1001
chr2038295733829641E071-821
chr2038297353829785E071-677
chr2038550123855125E07124550
chr2038561013856257E07125639
chr2038563343856966E07125872
chr2038736893873846E07143227
chr2038738613873947E07143399
chr2038740023874547E07143540
chr2038746923874752E07144230
chr2038762793876323E07145817
chr2038763643876435E07145902
chr2038769993877232E07146537
chr2038773663877410E07146904
chr2038775393877807E07147077
chr2038778623877915E07147400
chr2038780373878127E07147575
chr2038782793878340E07147817
chr2038801413880336E07149679
chr2037829723783027E072-47435
chr2037830393783101E072-47361
chr2037831243783298E072-47164
chr2037833193783437E072-47025
chr2037834513783505E072-46957
chr2037835493783683E072-46779
chr2037837223783772E072-46690
chr2037863383786400E072-44062
chr2037864013786534E072-43928
chr2037865593787118E072-43344
chr2037872313787306E072-43156
chr2037916193791669E072-38793
chr2037988123799885E072-30577
chr2038260403826516E072-3946
chr2038663383866408E07235876
chr2038664623866622E07236000
chr2038733463873562E07242884
chr2038735883873679E07243126
chr2038736893873846E07243227
chr2038738613873947E07243399
chr2038740023874547E07243540
chr2038746923874752E07244230
chr2037827683782873E073-47589
chr2037829723783027E073-47435
chr2037830393783101E073-47361
chr2037831243783298E073-47164
chr2037833193783437E073-47025
chr2037834513783505E073-46957
chr2037835493783683E073-46779
chr2037837223783772E073-46690
chr2037838853783983E073-46479
chr2037872313787306E073-43156
chr2037873503789404E073-41058
chr2037935633794687E073-35775
chr2037988123799885E073-30577
chr2037999233800053E073-30409
chr2038028493802908E073-27554
chr2038260403826516E073-3946
chr2038727573872815E07342295
chr2038730123873157E07342550
chr2038731933873290E07342731
chr2038733463873562E07342884
chr2038735883873679E07343126
chr2038736893873846E07343227
chr2038738613873947E07343399
chr2038755383875613E07345076
chr2038756713875774E07345209
chr2038760033876053E07345541
chr2038760793876129E07345617
chr2038762793876323E07345817
chr2038763643876435E07345902
chr2038769993877232E07346537
chr2038773663877410E07346904
chr2038775393877807E07347077
chr2038778623877915E07347400
chr2038780373878127E07347575
chr2037833193783437E074-47025
chr2037834513783505E074-46957
chr2037835493783683E074-46779
chr2037837223783772E074-46690
chr2037863383786400E074-44062
chr2037864013786534E074-43928
chr2037865593787118E074-43344
chr2037872313787306E074-43156
chr2037873503789404E074-41058
chr2037988123799885E074-30577
chr2037999233800053E074-30409
chr2038663383866408E07435876
chr2038664623866622E07436000
chr2038736893873846E07443227
chr2038738613873947E07443399
chr2038740023874547E07443540
chr2038746923874752E07444230
chr2038755383875613E07445076
chr2038756713875774E07445209
chr2038760033876053E07445541
chr2038760793876129E07445617
chr2038762793876323E07445817
chr2038763643876435E07445902
chr2038769993877232E07446537
chr2038773663877410E07446904
chr2038775393877807E07447077
chr2038778623877915E07447400
chr2038780373878127E07447575
chr2038782793878340E07447817
chr2038801413880336E07449679
chr2038559373856019E08125475
chr2038561013856257E08125639
chr2038654543865610E08134992
chr2038657313865828E08135269
chr2038730123873157E08142550
chr2038731933873290E08142731
chr2038733463873562E08142884
chr2038760033876053E08145541
chr2038760793876129E08145617
chr2037873503789404E082-41058
chr2038730123873157E08242550
chr2038731933873290E08242731
chr2038733463873562E08242884
chr2038735883873679E08243126
chr2038736893873846E08243227
chr2038738613873947E08243399
chr2038740023874547E08243540










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr2038000653802036E067-28426
chr2038267823828721E067-1741
chr2038689003871838E06738438
chr2038000653802036E068-28426
chr2038267823828721E068-1741
chr2038689003871838E06838438
chr2038000653802036E069-28426
chr2038267823828721E069-1741
chr2038689003871838E06938438
chr2038000653802036E070-28426
chr2038267823828721E070-1741
chr2038689003871838E07038438
chr2038000653802036E071-28426
chr2038267823828721E071-1741
chr2038689003871838E07138438
chr2038000653802036E072-28426
chr2038267823828721E072-1741
chr2038689003871838E07238438
chr2038000653802036E073-28426
chr2038267823828721E073-1741
chr2038689003871838E07338438
chr2038000653802036E074-28426
chr2038267823828721E074-1741
chr2038689003871838E07438438
chr2038000653802036E081-28426
chr2038689003871838E08138438
chr2038000653802036E082-28426
chr2038267823828721E082-1741
chr2038689003871838E08238438