rs13381416

Homo sapiens
A>G
MYL12A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0012 (367/29986,GnomAD)
G=0018 (535/29118,TOPMED)
G=0013 (64/5008,1000G)
G=0000 (1/3854,ALSPAC)
G=0000 (1/3708,TWINSUK)
chr18:3251835 (GRCh38.p7) (18p11.31)
CD
GWASdb2
1   publication(s)
See rs on genome
98 Enhancers around
30 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 18NC_000018.10:g.3251835A>G
GRCh37.p13 chr 18NC_000018.9:g.3251833A>G

Gene: MYL12A, myosin light chain 12A(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MYL12A transcript variant 2NM_001303047.1:c.N/AIntron Variant
MYL12A transcript variant 3NM_001303048.1:c.N/AIntron Variant
MYL12A transcript variant 1NM_006471.3:c.N/AIntron Variant
MYL12A transcript variant 4NM_001303049.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.952G=0.048
1000GenomesAmericanSub694A=1.000G=0.000
1000GenomesEast AsianSub1008A=1.000G=0.000
1000GenomesEuropeSub1006A=1.000G=0.000
1000GenomesGlobalStudy-wide5008A=0.987G=0.013
1000GenomesSouth AsianSub978A=1.000G=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=1.000G=0.000
The Genome Aggregation DatabaseAfricanSub8730A=0.958G=0.042
The Genome Aggregation DatabaseAmericanSub838A=1.000G=0.000
The Genome Aggregation DatabaseEast AsianSub1620A=1.000G=0.000
The Genome Aggregation DatabaseEuropeSub18496A=0.999G=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29986A=0.987G=0.012
The Genome Aggregation DatabaseOtherSub302A=1.000G=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.981G=0.018
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=1.000G=0.000
PMID Title Author Journal
23958962Genome-wide association study of cocaine dependence and related traits: FAM53B identified as a risk gene.Gelernter JMol Psychiatry

P-Value

SNP ID p-value Traits Study
rs133814161.06E-05cocaine dependence23958962

eQTL of rs13381416 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 rs13381416 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 )
chr1832094803209635E067-42198
chr1832097153209775E067-42058
chr1832643603264725E06712527
chr1832649153264959E06713082
chr1832654523266577E06713619
chr1832667393266819E06714906
chr1832668403266894E06715007
chr1832669083267029E06715075
chr1832670883267311E06715255
chr1832673513267475E06715518
chr1832832873284315E06731454
chr1832112003212022E068-39811
chr1832192143221043E068-30790
chr1832504163251102E068-731
chr1832604833260773E0688650
chr1832643603264725E06812527
chr1832649153264959E06813082
chr1832651913265243E06813358
chr1832652753265344E06813442
chr1832654523266577E06813619
chr1832667393266819E06814906
chr1832668403266894E06815007
chr1832669083267029E06815075
chr1832670883267311E06815255
chr1832673513267475E06815518
chr1832677993267853E06815966
chr1832681653268270E06816332
chr1832691993269819E06817366
chr1832701023270179E06818269
chr1832843933284444E06832560
chr1832112003212022E069-39811
chr1832192143221043E069-30790
chr1832643603264725E06912527
chr1832649153264959E06913082
chr1832651913265243E06913358
chr1832652753265344E06913442
chr1832654523266577E06913619
chr1832667393266819E06914906
chr1832668403266894E06915007
chr1832669083267029E06915075
chr1832670883267311E06915255
chr1832691993269819E06917366
chr1832643603264725E07012527
chr1832832873284315E07031454
chr1832112003212022E071-39811
chr1832643603264725E07112527
chr1832649153264959E07113082
chr1832651913265243E07113358
chr1832652753265344E07113442
chr1832654523266577E07113619
chr1832667393266819E07114906
chr1832668403266894E07115007
chr1832669083267029E07115075
chr1832670883267311E07115255
chr1832673513267475E07115518
chr1832681653268270E07116332
chr1832683673268670E07116534
chr1832687773269163E07116944
chr1832691993269819E07117366
chr1832701023270179E07118269
chr1832704233270578E07118590
chr1832813763282357E07129543
chr1832843933284444E07132560
chr1832643603264725E07212527
chr1832649153264959E07213082
chr1832651913265243E07213358
chr1832652753265344E07213442
chr1832654523266577E07213619
chr1832683673268670E07216534
chr1832687773269163E07216944
chr1832691993269819E07217366
chr1832704233270578E07218590
chr1832832873284315E07231454
chr1832843933284444E07232560
chr1832846443284787E07232811
chr1832643603264725E07312527
chr1832691993269819E07317366
chr1832832873284315E07331454
chr1832843933284444E07332560
chr1832846443284787E07332811
chr1832112003212022E074-39811
chr1832255503225932E074-25901
chr1832260833226328E074-25505
chr1832604833260773E0748650
chr1832643603264725E07412527
chr1832652753265344E07413442
chr1832654523266577E07413619
chr1832667393266819E07414906
chr1832691993269819E07417366
chr1832701023270179E07418269
chr1832813763282357E07429543
chr1832825573283206E07430724
chr1832832873284315E07431454
chr1832843933284444E07432560
chr1832643603264725E08112527
chr1832832873284315E08131454
chr1832843933284444E08132560
chr1832643603264725E08212527










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1832452003249648E067-2185
chr1832607763263674E0678943
chr1832967723297825E06744939
chr1832189113219179E068-32654
chr1832452003249648E068-2185
chr1832607763263674E0688943
chr1832967723297825E06844939
chr1832452003249648E069-2185
chr1832607763263674E0698943
chr1832967723297825E06944939
chr1832452003249648E070-2185
chr1832607763263674E0708943
chr1832967723297825E07044939
chr1832189113219179E071-32654
chr1832452003249648E071-2185
chr1832607763263674E0718943
chr1832967723297825E07144939
chr1832452003249648E072-2185
chr1832607763263674E0728943
chr1832967723297825E07244939
chr1832452003249648E073-2185
chr1832607763263674E0738943
chr1832967723297825E07344939
chr1832452003249648E074-2185
chr1832607763263674E0748943
chr1832967723297825E07444939
chr1832607763263674E0818943
chr1832452003249648E082-2185
chr1832607763263674E0828943
chr1832967723297825E08244939