rs11066053

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

MAPKAPK5 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

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)

Position: chr12:111866549 (GRCh38.p7) (12q24.12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 79 Enhancers around

Promoter: 9 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 12	NC_000012.12:g.111866549G>A
GRCh37.p13 chr 12	NC_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 1	NM_003668.3:c.	N/A	Intron Variant
MAPKAPK5 transcript variant 2	NM_139078.2:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X1	XM_017020125.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X2	XM_017020126.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X3	XM_017020127.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X4	XM_017020128.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X5	XM_017020129.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X6	XM_017020130.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X7	XM_017020131.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X8	XM_017020132.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X10	XM_017020133.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X11	XM_017020134.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X11	XM_017020135.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X13	XM_017020136.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X13	XM_017020137.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X16	XM_017020139.1:c.	N/A	Intron Variant
MAPKAPK5 transcript variant X15	XM_017020138.1:c.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.945	A=0.055
1000Genomes	American	Sub	694	G=0.860	A=0.140
1000Genomes	East Asian	Sub	1008	G=0.425	A=0.575
1000Genomes	Europe	Sub	1006	G=0.998	A=0.002
1000Genomes	Global	Study-wide	5008	G=0.833	A=0.167
1000Genomes	South Asian	Sub	978	G=0.920	A=0.080
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.997	A=0.003
The Genome Aggregation Database	African	Sub	8728	G=0.948	A=0.052
The Genome Aggregation Database	American	Sub	838	G=0.820	A=0.180
The Genome Aggregation Database	East Asian	Sub	1618	G=0.380	A=0.620
The Genome Aggregation Database	Europe	Sub	18498	G=0.996	A=0.003
The Genome Aggregation Database	Global	Study-wide	29984	G=0.944	A=0.055
The Genome Aggregation Database	Other	Sub	302	G=1.000	A=0.000
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.952	A=0.047
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.998	A=0.002

PMID	Title	Author	Journal
24277619	ALDH2 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 EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs11066053	0.000858	alcohol 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 )
chr12	112277752	112277915	E067	-26438
chr12	112278075	112278149	E067	-26204
chr12	112281800	112281856	E067	-22497
chr12	112282228	112282278	E067	-22075
chr12	112282350	112282404	E067	-21949
chr12	112282773	112282823	E067	-21530
chr12	112282990	112283030	E067	-21323
chr12	112283223	112283273	E067	-21080
chr12	112283296	112283369	E067	-20984
chr12	112283860	112284229	E067	-20124
chr12	112307607	112307692	E067	3254
chr12	112281800	112281856	E068	-22497
chr12	112282228	112282278	E068	-22075
chr12	112282350	112282404	E068	-21949
chr12	112282773	112282823	E068	-21530
chr12	112282990	112283030	E068	-21323
chr12	112277752	112277915	E069	-26438
chr12	112278075	112278149	E069	-26204
chr12	112282350	112282404	E069	-21949
chr12	112282773	112282823	E069	-21530
chr12	112282990	112283030	E069	-21323
chr12	112256486	112256526	E070	-47827
chr12	112257111	112257217	E070	-47136
chr12	112257250	112258148	E070	-46205
chr12	112258245	112258347	E070	-46006
chr12	112277649	112277701	E070	-26652
chr12	112277752	112277915	E070	-26438
chr12	112281800	112281856	E070	-22497
chr12	112282228	112282278	E070	-22075
chr12	112282350	112282404	E070	-21949
chr12	112282773	112282823	E070	-21530
chr12	112281800	112281856	E071	-22497
chr12	112282228	112282278	E071	-22075
chr12	112282350	112282404	E071	-21949
chr12	112282773	112282823	E071	-21530
chr12	112282990	112283030	E071	-21323
chr12	112305536	112305610	E071	1183
chr12	112305660	112305710	E071	1307
chr12	112306121	112306206	E071	1768
chr12	112323572	112323632	E071	19219
chr12	112323675	112323998	E071	19322
chr12	112325755	112326270	E071	21402
chr12	112326320	112326425	E071	21967
chr12	112326702	112326831	E071	22349
chr12	112326838	112326888	E071	22485
chr12	112326931	112327193	E071	22578
chr12	112281800	112281856	E072	-22497
chr12	112282228	112282278	E072	-22075
chr12	112282350	112282404	E072	-21949
chr12	112282773	112282823	E072	-21530
chr12	112282990	112283030	E072	-21323
chr12	112277649	112277701	E073	-26652
chr12	112277752	112277915	E073	-26438
chr12	112278075	112278149	E073	-26204
chr12	112282350	112282404	E073	-21949
chr12	112282773	112282823	E073	-21530
chr12	112281800	112281856	E074	-22497
chr12	112282228	112282278	E074	-22075
chr12	112282350	112282404	E074	-21949
chr12	112282773	112282823	E074	-21530
chr12	112282990	112283030	E074	-21323
chr12	112283860	112284229	E074	-20124
chr12	112305660	112305710	E074	1307
chr12	112277649	112277701	E081	-26652
chr12	112277752	112277915	E081	-26438
chr12	112278075	112278149	E081	-26204
chr12	112281800	112281856	E081	-22497
chr12	112282228	112282278	E081	-22075
chr12	112282350	112282404	E081	-21949
chr12	112282773	112282823	E081	-21530
chr12	112272767	112273138	E082	-31215
chr12	112277409	112277512	E082	-26841
chr12	112281800	112281856	E082	-22497
chr12	112282228	112282278	E082	-22075
chr12	112282350	112282404	E082	-21949
chr12	112282773	112282823	E082	-21530
chr12	112282990	112283030	E082	-21323
chr12	112283223	112283273	E082	-21080
chr12	112283296	112283369	E082	-20984

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr12	112278853	112281024	E067	-23329
chr12	112278853	112281024	E068	-23329
chr12	112278853	112281024	E069	-23329
chr12	112278853	112281024	E070	-23329
chr12	112278853	112281024	E071	-23329
chr12	112278853	112281024	E072	-23329
chr12	112278853	112281024	E073	-23329
chr12	112278853	112281024	E074	-23329
chr12	112278853	112281024	E082	-23329