rs61751192

Homo sapiens
C>T
MYL12A : Synonymous Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0003 (456/121356,ExAC)
T=0012 (368/29962,GnomAD)
T=0018 (535/29118,TOPMED)
C==0013 (175/13006,GO-ESP)
T=0013 (64/5008,1000G)
T=0000 (0/3854,ALSPAC)
T=0000 (1/3708,TWINSUK)
chr18:3253944 (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.3253944C>T
GRCh37.p13 chr 18NC_000018.9:g.3253942C>T

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

Molecule type Change Amino acid[Codon] SO Term
MYL12A transcript variant 1NM_006471.3:c.237C>TP [CCC]> P [CCT]Coding Sequence Variant
myosin regulatory light chain 12A isoform 1NP_006462.1:p.Pro79=P [Pro]> P [Pro]Synonymous Variant
MYL12A transcript variant 2NM_001303047.1:c....NM_001303047.1:c.237C>TP [CCC]> P [CCT]Coding Sequence Variant
myosin regulatory light chain 12A isoform 1NP_001289976.1:p....NP_001289976.1:p.Pro79=P [Pro]> P [Pro]Synonymous Variant
MYL12A transcript variant 3NM_001303048.1:c....NM_001303048.1:c.237C>TP [CCC]> P [CCT]Coding Sequence Variant
myosin regulatory light chain 12A isoform 1NP_001289977.1:p....NP_001289977.1:p.Pro79=P [Pro]> P [Pro]Synonymous Variant
MYL12A transcript variant 4NM_001303049.1:c....NM_001303049.1:c.255C>TP [CCC]> P [CCT]Coding Sequence Variant
myosin regulatory light chain 12A isoform 2NP_001289978.1:p....NP_001289978.1:p.Pro85=P [Pro]> P [Pro]Synonymous Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.952T=0.048
1000GenomesAmericanSub694C=1.000T=0.000
1000GenomesEast AsianSub1008C=1.000T=0.000
1000GenomesEuropeSub1006C=1.000T=0.000
1000GenomesGlobalStudy-wide5008C=0.987T=0.013
1000GenomesSouth AsianSub978C=1.000T=0.000
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=1.000T=0.000
The Exome Aggregation ConsortiumAmericanSub21958C=0.979T=0.020
The Exome Aggregation ConsortiumAsianSub25166C=1.000T=0.000
The Exome Aggregation ConsortiumEuropeSub73326C=0.999T=0.000
The Exome Aggregation ConsortiumGlobalStudy-wide121356C=0.996T=0.003
The Exome Aggregation ConsortiumOtherSub906C=1.000T=0.000
The Genome Aggregation DatabaseAfricanSub8714C=0.958T=0.042
The Genome Aggregation DatabaseAmericanSub836C=1.000T=0.000
The Genome Aggregation DatabaseEast AsianSub1620C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18490C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29962C=0.987T=0.012
The Genome Aggregation DatabaseOtherSub302C=1.000T=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.981T=0.018
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=1.000T=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
rs617511921.73E-05cocaine dependence23958962

eQTL of rs61751192 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 rs61751192 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 )
chr1832094803209635E067-44307
chr1832097153209775E067-44167
chr1832643603264725E06710418
chr1832649153264959E06710973
chr1832654523266577E06711510
chr1832667393266819E06712797
chr1832668403266894E06712898
chr1832669083267029E06712966
chr1832670883267311E06713146
chr1832673513267475E06713409
chr1832832873284315E06729345
chr1832112003212022E068-41920
chr1832192143221043E068-32899
chr1832504163251102E068-2840
chr1832604833260773E0686541
chr1832643603264725E06810418
chr1832649153264959E06810973
chr1832651913265243E06811249
chr1832652753265344E06811333
chr1832654523266577E06811510
chr1832667393266819E06812797
chr1832668403266894E06812898
chr1832669083267029E06812966
chr1832670883267311E06813146
chr1832673513267475E06813409
chr1832677993267853E06813857
chr1832681653268270E06814223
chr1832691993269819E06815257
chr1832701023270179E06816160
chr1832843933284444E06830451
chr1832112003212022E069-41920
chr1832192143221043E069-32899
chr1832643603264725E06910418
chr1832649153264959E06910973
chr1832651913265243E06911249
chr1832652753265344E06911333
chr1832654523266577E06911510
chr1832667393266819E06912797
chr1832668403266894E06912898
chr1832669083267029E06912966
chr1832670883267311E06913146
chr1832691993269819E06915257
chr1832643603264725E07010418
chr1832832873284315E07029345
chr1832112003212022E071-41920
chr1832643603264725E07110418
chr1832649153264959E07110973
chr1832651913265243E07111249
chr1832652753265344E07111333
chr1832654523266577E07111510
chr1832667393266819E07112797
chr1832668403266894E07112898
chr1832669083267029E07112966
chr1832670883267311E07113146
chr1832673513267475E07113409
chr1832681653268270E07114223
chr1832683673268670E07114425
chr1832687773269163E07114835
chr1832691993269819E07115257
chr1832701023270179E07116160
chr1832704233270578E07116481
chr1832813763282357E07127434
chr1832843933284444E07130451
chr1832643603264725E07210418
chr1832649153264959E07210973
chr1832651913265243E07211249
chr1832652753265344E07211333
chr1832654523266577E07211510
chr1832683673268670E07214425
chr1832687773269163E07214835
chr1832691993269819E07215257
chr1832704233270578E07216481
chr1832832873284315E07229345
chr1832843933284444E07230451
chr1832846443284787E07230702
chr1832643603264725E07310418
chr1832691993269819E07315257
chr1832832873284315E07329345
chr1832843933284444E07330451
chr1832846443284787E07330702
chr1832112003212022E074-41920
chr1832255503225932E074-28010
chr1832260833226328E074-27614
chr1832604833260773E0746541
chr1832643603264725E07410418
chr1832652753265344E07411333
chr1832654523266577E07411510
chr1832667393266819E07412797
chr1832691993269819E07415257
chr1832701023270179E07416160
chr1832813763282357E07427434
chr1832825573283206E07428615
chr1832832873284315E07429345
chr1832843933284444E07430451
chr1832643603264725E08110418
chr1832832873284315E08129345
chr1832843933284444E08130451
chr1832643603264725E08210418










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1832452003249648E067-4294
chr1832607763263674E0676834
chr1832967723297825E06742830
chr1832189113219179E068-34763
chr1832452003249648E068-4294
chr1832607763263674E0686834
chr1832967723297825E06842830
chr1832452003249648E069-4294
chr1832607763263674E0696834
chr1832967723297825E06942830
chr1832452003249648E070-4294
chr1832607763263674E0706834
chr1832967723297825E07042830
chr1832189113219179E071-34763
chr1832452003249648E071-4294
chr1832607763263674E0716834
chr1832967723297825E07142830
chr1832452003249648E072-4294
chr1832607763263674E0726834
chr1832967723297825E07242830
chr1832452003249648E073-4294
chr1832607763263674E0736834
chr1832967723297825E07342830
chr1832452003249648E074-4294
chr1832607763263674E0746834
chr1832967723297825E07442830
chr1832607763263674E0816834
chr1832452003249648E082-4294
chr1832607763263674E0826834
chr1832967723297825E08242830