rs4276859

Homo sapiens
C>T
MYOM3 : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0200 (10548/52572,ExAC)
T=0125 (3763/29890,GnomAD)
T=0152 (4427/29118,TOPMED)
C==0122 (1518/12428,GO-ESP)
T=0174 (871/5008,1000G)
T=0098 (378/3854,ALSPAC)
T=0103 (381/3708,TWINSUK)
chr1:24089643 (GRCh38.p7) (1p36.11)
AD
GWASdb2
1   publication(s)
See rs on genome
17 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.24089643C>T
GRCh37.p13 chr 1NC_000001.10:g.24416133C>T

Gene: MYOM3, myomesin 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
MYOM3 transcriptNM_152372.3:c.150...NM_152372.3:c.1509G>AP [CCG]> P [CCA]Coding Sequence Variant
myomesin-3NP_689585.3:p.Pro...NP_689585.3:p.Pro503=P [Pro]> P [Pro]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.812T=0.188
1000GenomesAmericanSub694C=0.870T=0.130
1000GenomesEast AsianSub1008C=0.815T=0.185
1000GenomesEuropeSub1006C=0.886T=0.114
1000GenomesGlobalStudy-wide5008C=0.826T=0.174
1000GenomesSouth AsianSub978C=0.760T=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.902T=0.098
The Exome Aggregation ConsortiumAmericanSub8234C=0.792T=0.208
The Exome Aggregation ConsortiumAsianSub13920C=0.740T=0.259
The Exome Aggregation ConsortiumEuropeSub30040C=0.828T=0.171
The Exome Aggregation ConsortiumGlobalStudy-wide52572C=0.799T=0.200
The Exome Aggregation ConsortiumOtherSub378C=0.800T=0.200
The Genome Aggregation DatabaseAfricanSub8696C=0.831T=0.169
The Genome Aggregation DatabaseAmericanSub834C=0.850T=0.150
The Genome Aggregation DatabaseEast AsianSub1614C=0.810T=0.190
The Genome Aggregation DatabaseEuropeSub18446C=0.902T=0.097
The Genome Aggregation DatabaseGlobalStudy-wide29890C=0.874T=0.125
The Genome Aggregation DatabaseOtherSub300C=0.800T=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.848T=0.152
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.897T=0.103
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
rs42768590.00042Alcohol dependence (early age of onset)20201924
rs42768590.00049alcohol dependence20201924

eQTL of rs4276859 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 rs4276859 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 )
chr12443835524438536E06722222
chr12444662224447258E06830489
chr12444731124447491E06831178
chr12443854924439447E06922416
chr12437267624373198E070-42935
chr12437324124373337E070-42796
chr12439728824397819E070-18314
chr12444662224447258E07130489
chr12444731124447491E07131178
chr12439728824397819E072-18314
chr12443854924439447E07322416
chr12443835524438536E07422222
chr12443835524438536E08122222
chr12443854924439447E08122416
chr12437230924372611E082-43522
chr12437267624373198E082-42935
chr12439728824397819E082-18314