rs2269234

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

PGM1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0258 (7742/29926,GnomAD)
G=0264 (7688/29118,TOPMED)
G=0279 (1399/5008,1000G)
G=0191 (736/3854,ALSPAC)
G=0184 (681/3708,TWINSUK)

Position: chr1:63653305 (GRCh38.p7) (1p31.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 68 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.63653305A>G
GRCh37.p13 chr 1	NC_000001.10:g.64118976A>G
PGM1 RefSeqGene	NG_016966.1:g.65030A>G

Gene: PGM1, phosphoglucomutase 1(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PGM1 transcript variant 2	NM_001172818.1:c.	N/A	Intron Variant
PGM1 transcript variant 3	NM_001172819.1:c.	N/A	Intron Variant
PGM1 transcript variant 1	NM_002633.2:c.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.607	G=0.393
1000Genomes	American	Sub	694	A=0.590	G=0.410
1000Genomes	East Asian	Sub	1008	A=0.794	G=0.206
1000Genomes	Europe	Sub	1006	A=0.775	G=0.225
1000Genomes	Global	Study-wide	5008	A=0.721	G=0.279
1000Genomes	South Asian	Sub	978	A=0.830	G=0.170
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.809	G=0.191
The Genome Aggregation Database	African	Sub	8692	A=0.659	G=0.341
The Genome Aggregation Database	American	Sub	832	A=0.620	G=0.380
The Genome Aggregation Database	East Asian	Sub	1618	A=0.786	G=0.214
The Genome Aggregation Database	Europe	Sub	18482	A=0.781	G=0.218
The Genome Aggregation Database	Global	Study-wide	29926	A=0.741	G=0.258
The Genome Aggregation Database	Other	Sub	302	A=0.780	G=0.220
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.736	G=0.264
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.816	G=0.184

PMID	Title	Author	Journal
21665994	Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.	Kutalik Z	Hum Mol Genet

P-Value

SNP ID	p-value	Traits	Study
rs2269234	4.47E-08	alcohol consumption	21665994

eQTL of rs2269234 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 rs2269234 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 )
chr1	64078376	64078513	E067	-40463
chr1	64078704	64079142	E067	-39834
chr1	64088634	64089292	E067	-29684
chr1	64078376	64078513	E068	-40463
chr1	64081448	64081915	E068	-37061
chr1	64082007	64082105	E068	-36871
chr1	64088634	64089292	E068	-29684
chr1	64139986	64141001	E068	21010
chr1	64078376	64078513	E069	-40463
chr1	64078704	64079142	E069	-39834
chr1	64081448	64081915	E069	-37061
chr1	64082007	64082105	E069	-36871
chr1	64156823	64156888	E069	37847
chr1	64157137	64157261	E069	38161
chr1	64163403	64163697	E069	44427
chr1	64163884	64164427	E069	44908
chr1	64165152	64165382	E069	46176
chr1	64108723	64108792	E070	-10184
chr1	64108901	64108951	E070	-10025
chr1	64108983	64109138	E070	-9838
chr1	64111546	64111722	E070	-7254
chr1	64081448	64081915	E071	-37061
chr1	64082007	64082105	E071	-36871
chr1	64082217	64082363	E071	-36613
chr1	64139986	64141001	E071	21010
chr1	64163203	64163347	E071	44227
chr1	64163403	64163697	E071	44427
chr1	64165152	64165382	E071	46176
chr1	64088634	64089292	E072	-29684
chr1	64089607	64090320	E072	-28656
chr1	64101428	64101659	E072	-17317
chr1	64102053	64102103	E072	-16873
chr1	64160611	64160818	E072	41635
chr1	64160918	64161040	E072	41942
chr1	64161077	64161221	E072	42101
chr1	64163203	64163347	E072	44227
chr1	64163403	64163697	E072	44427
chr1	64163884	64164427	E072	44908
chr1	64081448	64081915	E073	-37061
chr1	64082007	64082105	E073	-36871
chr1	64082007	64082105	E074	-36871
chr1	64082217	64082363	E074	-36613
chr1	64088634	64089292	E074	-29684
chr1	64091772	64091822	E074	-27154
chr1	64139986	64141001	E074	21010
chr1	64082007	64082105	E081	-36871
chr1	64082217	64082363	E081	-36613
chr1	64086499	64086636	E081	-32340
chr1	64086834	64087062	E081	-31914
chr1	64087157	64087315	E081	-31661
chr1	64087461	64087721	E081	-31255
chr1	64088634	64089292	E081	-29684
chr1	64090756	64090893	E081	-28083
chr1	64090914	64091024	E081	-27952
chr1	64109343	64110000	E081	-8976
chr1	64139986	64141001	E081	21010
chr1	64141023	64142025	E081	22047
chr1	64082007	64082105	E082	-36871
chr1	64082217	64082363	E082	-36613
chr1	64086499	64086636	E082	-32340
chr1	64086834	64087062	E082	-31914
chr1	64087157	64087315	E082	-31661
chr1	64087461	64087721	E082	-31255
chr1	64108901	64108951	E082	-10025
chr1	64108983	64109138	E082	-9838
chr1	64109343	64110000	E082	-8976
chr1	64111546	64111722	E082	-7254
chr1	64141023	64142025	E082	22047