rs484358

Homo sapiens
G>A
ACTN3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0247 (7416/29926,GnomAD)
G==0248 (7247/29118,TOPMED)
G==0329 (1646/5008,1000G)
G==0332 (1278/3854,ALSPAC)
G==0334 (1238/3708,TWINSUK)
chr11:66551791 (GRCh38.p7) (11q13.2)
AD
GWASdb2
1   publication(s)
See rs on genome
109 Enhancers around
30 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 11NC_000011.10:g.66551791G>A
GRCh37.p13 chr 11NC_000011.9:g.66319262G>A
ACTN3 RefSeqGeneNG_013304.2:g.9872G>A

Gene: ACTN3, actinin alpha 3 (gene/pseudogene)(plus strand)

Molecule type Change Amino acid[Codon] SO Term
ACTN3 transcript variant 1, codingNM_001104.3:c.N/AIntron Variant
ACTN3 transcript variant 2NM_001258371.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.035A=0.965
1000GenomesAmericanSub694G=0.470A=0.530
1000GenomesEast AsianSub1008G=0.369A=0.631
1000GenomesEuropeSub1006G=0.335A=0.665
1000GenomesGlobalStudy-wide5008G=0.329A=0.671
1000GenomesSouth AsianSub978G=0.580A=0.420
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.332A=0.668
The Genome Aggregation DatabaseAfricanSub8724G=0.079A=0.921
The Genome Aggregation DatabaseAmericanSub836G=0.550A=0.450
The Genome Aggregation DatabaseEast AsianSub1616G=0.378A=0.622
The Genome Aggregation DatabaseEuropeSub18448G=0.301A=0.698
The Genome Aggregation DatabaseGlobalStudy-wide29926G=0.247A=0.752
The Genome Aggregation DatabaseOtherSub302G=0.300A=0.700
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.248A=0.751
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.334A=0.666
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs4843580.000019alcohol dependence20201924
rs4843580.0000193alcoholismpha002893
rs4843580.0000616alcoholismpha002892
rs4843580.000062alcohol dependence(early age of onset)20201924

eQTL of rs484358 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr11:66319262CTD-3074O7.2ENSG00000250105.1G>A6.5360e-8-8593Cerebellum
Chr11:66319262CTD-3074O7.2ENSG00000250105.1G>A3.5476e-8-8593Cerebellar_Hemisphere

meQTL of rs484358 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 )
chr116627717466277270E067-41992
chr116627741166277465E067-41797
chr116627983366279883E067-39379
chr116633470566334768E06715443
chr116634638166347129E06727119
chr116634716666347295E06727904
chr116636200466362063E06742742
chr116636228866362345E06743026
chr116636239466362612E06743132
chr116636263166363457E06743369
chr116631047666312045E068-7217
chr116633470566334768E06815443
chr116633676766336889E06817505
chr116635941466359497E06840152
chr116636200466362063E06842742
chr116636228866362345E06843026
chr116636239466362612E06843132
chr116636263166363457E06843369
chr116636371066363760E06844448
chr116631047666312045E069-7217
chr116631220466312281E069-6981
chr116631235366312482E069-6780
chr116633470566334768E06915443
chr116633676766336889E06917505
chr116634638166347129E06927119
chr116634716666347295E06927904
chr116636200466362063E06942742
chr116636228866362345E06943026
chr116636239466362612E06943132
chr116636263166363457E06943369
chr116632698166327228E0707719
chr116633488466334964E07015622
chr116636200466362063E07042742
chr116636228866362345E07043026
chr116636239466362612E07043132
chr116636263166363457E07043369
chr116632698166327228E0717719
chr116633470566334768E07115443
chr116633488466334964E07115622
chr116633676766336889E07117505
chr116636228866362345E07143026
chr116636239466362612E07143132
chr116636263166363457E07143369
chr116630923266309282E072-9980
chr116630940666309446E072-9816
chr116630946466309518E072-9744
chr116630961466309705E072-9557
chr116630982566309880E072-9382
chr116631002266310092E072-9170
chr116631016066310248E072-9014
chr116631034666310396E072-8866
chr116631040066310440E072-8822
chr116631047666312045E072-7217
chr116631220466312281E072-6981
chr116631235366312482E072-6780
chr116633470566334768E07215443
chr116633676766336889E07217505
chr116636200466362063E07242742
chr116636228866362345E07243026
chr116636239466362612E07243132
chr116627983366279883E073-39379
chr116630908166309131E073-10131
chr116630923266309282E073-9980
chr116630940666309446E073-9816
chr116630946466309518E073-9744
chr116630961466309705E073-9557
chr116630982566309880E073-9382
chr116631002266310092E073-9170
chr116631016066310248E073-9014
chr116631034666310396E073-8866
chr116631040066310440E073-8822
chr116631047666312045E073-7217
chr116633676766336889E07317505
chr116633693066336984E07317668
chr116636200466362063E07342742
chr116636228866362345E07343026
chr116636239466362612E07343132
chr116636263166363457E07343369
chr116631235366312482E074-6780
chr116633488466334964E07415622
chr116633676766336889E07417505
chr116634716666347295E07427904
chr116636200466362063E07442742
chr116636228866362345E07443026
chr116636239466362612E07443132
chr116636263166363457E07443369
chr116636371066363760E07444448
chr116627936266279416E081-39846
chr116631047666312045E081-7217
chr116631220466312281E081-6981
chr116631235366312482E081-6780
chr116632698166327228E0817719
chr116633470566334768E08115443
chr116633488466334964E08115622
chr116633504266335138E08115780
chr116636200466362063E08142742
chr116636228866362345E08143026
chr116636239466362612E08143132
chr116636263166363457E08143369
chr116627936266279416E082-39846
chr116627983366279883E082-39379
chr116631047666312045E082-7217
chr116631220466312281E082-6981
chr116631235366312482E082-6780
chr116632458166324682E0825319
chr116632494366325069E0825681
chr116636239466362612E08243132
chr116636263166363457E08243369
chr116636654966366599E08247287










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr116627768766278678E067-40584
chr116633555766336430E06716295
chr116635954066361270E06740278
chr116627768766278678E068-40584
chr116633555766336430E06816295
chr116635954066361270E06840278
chr116627768766278678E069-40584
chr116633555766336430E06916295
chr116635954066361270E06940278
chr116627768766278678E070-40584
chr116633555766336430E07016295
chr116635954066361270E07040278
chr116627768766278678E071-40584
chr116633555766336430E07116295
chr116635954066361270E07140278
chr116627768766278678E072-40584
chr116633555766336430E07216295
chr116635954066361270E07240278
chr116627768766278678E073-40584
chr116631279666316051E073-3211
chr116633555766336430E07316295
chr116635954066361270E07340278
chr116627768766278678E074-40584
chr116633555766336430E07416295
chr116635954066361270E07440278
chr116627768766278678E081-40584
chr116635954066361270E08140278
chr116627768766278678E082-40584
chr116633555766336430E08216295
chr116635954066361270E08240278