rs79794368

Homo sapiens
C>T
MYL12A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0012 (364/29970,GnomAD)
T=0018 (535/29118,TOPMED)
T=0013 (64/5008,1000G)
T=0000 (1/3854,ALSPAC)
T=0000 (1/3708,TWINSUK)
chr18:3249131 (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.3249131C>T
GRCh37.p13 chr 18NC_000018.9:g.3249129C>T

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
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 Genome Aggregation DatabaseAfricanSub8718C=0.959T=0.041
The Genome Aggregation DatabaseAmericanSub838C=1.000T=0.000
The Genome Aggregation DatabaseEast AsianSub1622C=1.000T=0.000
The Genome Aggregation DatabaseEuropeSub18490C=0.999T=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29970C=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
rs797943681.48E-05cocaine dependence23958962

eQTL of rs79794368 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 rs79794368 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 )
chr1832094803209635E067-39494
chr1832097153209775E067-39354
chr1832643603264725E06715231
chr1832649153264959E06715786
chr1832654523266577E06716323
chr1832667393266819E06717610
chr1832668403266894E06717711
chr1832669083267029E06717779
chr1832670883267311E06717959
chr1832673513267475E06718222
chr1832832873284315E06734158
chr1832112003212022E068-37107
chr1832192143221043E068-28086
chr1832504163251102E0681287
chr1832604833260773E06811354
chr1832643603264725E06815231
chr1832649153264959E06815786
chr1832651913265243E06816062
chr1832652753265344E06816146
chr1832654523266577E06816323
chr1832667393266819E06817610
chr1832668403266894E06817711
chr1832669083267029E06817779
chr1832670883267311E06817959
chr1832673513267475E06818222
chr1832677993267853E06818670
chr1832681653268270E06819036
chr1832691993269819E06820070
chr1832701023270179E06820973
chr1832843933284444E06835264
chr1832112003212022E069-37107
chr1832192143221043E069-28086
chr1832643603264725E06915231
chr1832649153264959E06915786
chr1832651913265243E06916062
chr1832652753265344E06916146
chr1832654523266577E06916323
chr1832667393266819E06917610
chr1832668403266894E06917711
chr1832669083267029E06917779
chr1832670883267311E06917959
chr1832691993269819E06920070
chr1832643603264725E07015231
chr1832832873284315E07034158
chr1832112003212022E071-37107
chr1832643603264725E07115231
chr1832649153264959E07115786
chr1832651913265243E07116062
chr1832652753265344E07116146
chr1832654523266577E07116323
chr1832667393266819E07117610
chr1832668403266894E07117711
chr1832669083267029E07117779
chr1832670883267311E07117959
chr1832673513267475E07118222
chr1832681653268270E07119036
chr1832683673268670E07119238
chr1832687773269163E07119648
chr1832691993269819E07120070
chr1832701023270179E07120973
chr1832704233270578E07121294
chr1832813763282357E07132247
chr1832843933284444E07135264
chr1832643603264725E07215231
chr1832649153264959E07215786
chr1832651913265243E07216062
chr1832652753265344E07216146
chr1832654523266577E07216323
chr1832683673268670E07219238
chr1832687773269163E07219648
chr1832691993269819E07220070
chr1832704233270578E07221294
chr1832832873284315E07234158
chr1832843933284444E07235264
chr1832846443284787E07235515
chr1832643603264725E07315231
chr1832691993269819E07320070
chr1832832873284315E07334158
chr1832843933284444E07335264
chr1832846443284787E07335515
chr1832112003212022E074-37107
chr1832255503225932E074-23197
chr1832260833226328E074-22801
chr1832604833260773E07411354
chr1832643603264725E07415231
chr1832652753265344E07416146
chr1832654523266577E07416323
chr1832667393266819E07417610
chr1832691993269819E07420070
chr1832701023270179E07420973
chr1832813763282357E07432247
chr1832825573283206E07433428
chr1832832873284315E07434158
chr1832843933284444E07435264
chr1832643603264725E08115231
chr1832832873284315E08134158
chr1832843933284444E08135264
chr1832643603264725E08215231










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1832452003249648E0670
chr1832607763263674E06711647
chr1832967723297825E06747643
chr1832189113219179E068-29950
chr1832452003249648E0680
chr1832607763263674E06811647
chr1832967723297825E06847643
chr1832452003249648E0690
chr1832607763263674E06911647
chr1832967723297825E06947643
chr1832452003249648E0700
chr1832607763263674E07011647
chr1832967723297825E07047643
chr1832189113219179E071-29950
chr1832452003249648E0710
chr1832607763263674E07111647
chr1832967723297825E07147643
chr1832452003249648E0720
chr1832607763263674E07211647
chr1832967723297825E07247643
chr1832452003249648E0730
chr1832607763263674E07311647
chr1832967723297825E07347643
chr1832452003249648E0740
chr1832607763263674E07411647
chr1832967723297825E07447643
chr1832607763263674E08111647
chr1832452003249648E0820
chr1832607763263674E08211647
chr1832967723297825E08247643