rs11534045

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

IMMP2L : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0287 (8358/29118,TOPMED)
A=0304 (8495/27940,GnomAD)
A=0408 (2042/5008,1000G)
A=0304 (1172/3854,ALSPAC)
A=0327 (1214/3708,TWINSUK)

Position: chr7:111295923 (GRCh38.p7) (7q31.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 15 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 7	NC_000007.14:g.111295923G>A
GRCh37.p13 chr 7	NC_000007.13:g.110935979G>A
IMMP2L RefSeqGene	NG_030016.1:g.271595C>T

Gene: IMMP2L, IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IMMP2L transcript variant 2	NM_001244606.1:c.	N/A	Intron Variant
IMMP2L transcript variant 1	NM_032549.3:c.	N/A	Intron Variant
IMMP2L transcript variant X10	XM_005250630.3:c.	N/A	Intron Variant
IMMP2L transcript variant X5	XM_011516605.2:c.	N/A	Intron Variant
IMMP2L transcript variant X7	XM_011516608.2:c.	N/A	Intron Variant
IMMP2L transcript variant X9	XM_011516609.2:c.	N/A	Intron Variant
IMMP2L transcript variant X13	XM_011516613.2:c.	N/A	Intron Variant
IMMP2L transcript variant X1	XM_017012699.1:c.	N/A	Intron Variant
IMMP2L transcript variant X2	XM_017012700.1:c.	N/A	Intron Variant
IMMP2L transcript variant X3	XM_017012701.1:c.	N/A	Intron Variant
IMMP2L transcript variant X4	XM_017012702.1:c.	N/A	Intron Variant
IMMP2L transcript variant X5	XM_017012703.1:c.	N/A	Intron Variant
IMMP2L transcript variant X6	XM_017012704.1:c.	N/A	Intron Variant
IMMP2L transcript variant X9	XM_017012705.1:c.	N/A	Intron Variant
IMMP2L transcript variant X10	XM_011516611.2:c.	N/A	Genic Downstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.808	A=0.192
1000Genomes	American	Sub	694	G=0.590	A=0.410
1000Genomes	East Asian	Sub	1008	G=0.476	A=0.524
1000Genomes	Europe	Sub	1006	G=0.644	A=0.356
1000Genomes	Global	Study-wide	5008	G=0.592	A=0.408
1000Genomes	South Asian	Sub	978	G=0.370	A=0.630
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.696	A=0.304
The Genome Aggregation Database	African	Sub	8452	G=0.789	A=0.211
The Genome Aggregation Database	American	Sub	738	G=0.610	A=0.390
The Genome Aggregation Database	East Asian	Sub	1590	G=0.477	A=0.523
The Genome Aggregation Database	Europe	Sub	16860	G=0.676	A=0.323
The Genome Aggregation Database	Global	Study-wide	27940	G=0.696	A=0.304
The Genome Aggregation Database	Other	Sub	300	G=0.560	A=0.440
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.713	A=0.287
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.673	A=0.327

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

P-Value

SNP ID	p-value	Traits	Study
rs11534045	5.9E-05	alcoholism (heaviness of drinking)	21529783

eQTL of rs11534045 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 rs11534045 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 )
chr7	110914565	110915399	E068	-20580
chr7	110914565	110915399	E070	-20580
chr7	110930961	110931015	E070	-4964
chr7	110931033	110931097	E070	-4882
chr7	110931112	110931162	E070	-4817
chr7	110931340	110931435	E070	-4544
chr7	110931566	110931616	E070	-4363
chr7	110933080	110933130	E070	-2849
chr7	110914565	110915399	E071	-20580
chr7	110904875	110904929	E081	-31050
chr7	110905610	110905765	E081	-30214
chr7	110905978	110906025	E081	-29954
chr7	110904875	110904929	E082	-31050
chr7	110905610	110905765	E082	-30214
chr7	110914565	110915399	E082	-20580