rs11066053

Homo sapiens
G>A
MAPKAPK5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0055 (1673/29984,GnomAD)
A=0047 (1375/29118,TOPMED)
A=0167 (835/5008,1000G)
A=0003 (13/3854,ALSPAC)
A=0002 (9/3708,TWINSUK)
chr12:111866549 (GRCh38.p7) (12q24.12)
AD
GWASdb2
1   publication(s)
See rs on genome
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.111866549G>A
GRCh37.p13 chr 12NC_000012.11:g.112304353G>A

Gene: MAPKAPK5, mitogen-activated protein kinase-activated protein kinase 5(plus strand)

Molecule type Change Amino acid[Codon] SO Term
MAPKAPK5 transcript variant 1NM_003668.3:c.N/AIntron Variant
MAPKAPK5 transcript variant 2NM_139078.2:c.N/AIntron Variant
MAPKAPK5 transcript variant X1XM_017020125.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X2XM_017020126.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X3XM_017020127.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X4XM_017020128.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X5XM_017020129.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X6XM_017020130.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X7XM_017020131.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X8XM_017020132.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X10XM_017020133.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X11XM_017020134.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X11XM_017020135.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X13XM_017020136.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X13XM_017020137.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X16XM_017020139.1:c.N/AIntron Variant
MAPKAPK5 transcript variant X15XM_017020138.1:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.945A=0.055
1000GenomesAmericanSub694G=0.860A=0.140
1000GenomesEast AsianSub1008G=0.425A=0.575
1000GenomesEuropeSub1006G=0.998A=0.002
1000GenomesGlobalStudy-wide5008G=0.833A=0.167
1000GenomesSouth AsianSub978G=0.920A=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.997A=0.003
The Genome Aggregation DatabaseAfricanSub8728G=0.948A=0.052
The Genome Aggregation DatabaseAmericanSub838G=0.820A=0.180
The Genome Aggregation DatabaseEast AsianSub1618G=0.380A=0.620
The Genome Aggregation DatabaseEuropeSub18498G=0.996A=0.003
The Genome Aggregation DatabaseGlobalStudy-wide29984G=0.944A=0.055
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.952A=0.047
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.998A=0.002
PMID Title Author Journal
24277619ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.Quillen EEAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs110660530.000858alcohol consumption (maxi-drinks)24277619

eQTL of rs11066053 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 rs11066053 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 )
chr12112277752112277915E067-26438
chr12112278075112278149E067-26204
chr12112281800112281856E067-22497
chr12112282228112282278E067-22075
chr12112282350112282404E067-21949
chr12112282773112282823E067-21530
chr12112282990112283030E067-21323
chr12112283223112283273E067-21080
chr12112283296112283369E067-20984
chr12112283860112284229E067-20124
chr12112307607112307692E0673254
chr12112281800112281856E068-22497
chr12112282228112282278E068-22075
chr12112282350112282404E068-21949
chr12112282773112282823E068-21530
chr12112282990112283030E068-21323
chr12112277752112277915E069-26438
chr12112278075112278149E069-26204
chr12112282350112282404E069-21949
chr12112282773112282823E069-21530
chr12112282990112283030E069-21323
chr12112256486112256526E070-47827
chr12112257111112257217E070-47136
chr12112257250112258148E070-46205
chr12112258245112258347E070-46006
chr12112277649112277701E070-26652
chr12112277752112277915E070-26438
chr12112281800112281856E070-22497
chr12112282228112282278E070-22075
chr12112282350112282404E070-21949
chr12112282773112282823E070-21530
chr12112281800112281856E071-22497
chr12112282228112282278E071-22075
chr12112282350112282404E071-21949
chr12112282773112282823E071-21530
chr12112282990112283030E071-21323
chr12112305536112305610E0711183
chr12112305660112305710E0711307
chr12112306121112306206E0711768
chr12112323572112323632E07119219
chr12112323675112323998E07119322
chr12112325755112326270E07121402
chr12112326320112326425E07121967
chr12112326702112326831E07122349
chr12112326838112326888E07122485
chr12112326931112327193E07122578
chr12112281800112281856E072-22497
chr12112282228112282278E072-22075
chr12112282350112282404E072-21949
chr12112282773112282823E072-21530
chr12112282990112283030E072-21323
chr12112277649112277701E073-26652
chr12112277752112277915E073-26438
chr12112278075112278149E073-26204
chr12112282350112282404E073-21949
chr12112282773112282823E073-21530
chr12112281800112281856E074-22497
chr12112282228112282278E074-22075
chr12112282350112282404E074-21949
chr12112282773112282823E074-21530
chr12112282990112283030E074-21323
chr12112283860112284229E074-20124
chr12112305660112305710E0741307
chr12112277649112277701E081-26652
chr12112277752112277915E081-26438
chr12112278075112278149E081-26204
chr12112281800112281856E081-22497
chr12112282228112282278E081-22075
chr12112282350112282404E081-21949
chr12112282773112282823E081-21530
chr12112272767112273138E082-31215
chr12112277409112277512E082-26841
chr12112281800112281856E082-22497
chr12112282228112282278E082-22075
chr12112282350112282404E082-21949
chr12112282773112282823E082-21530
chr12112282990112283030E082-21323
chr12112283223112283273E082-21080
chr12112283296112283369E082-20984










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr12112278853112281024E067-23329
chr12112278853112281024E068-23329
chr12112278853112281024E069-23329
chr12112278853112281024E070-23329
chr12112278853112281024E071-23329
chr12112278853112281024E072-23329
chr12112278853112281024E073-23329
chr12112278853112281024E074-23329
chr12112278853112281024E082-23329