rs855350

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0436 (13042/29916,GnomAD)
T=0466 (13578/29118,TOPMED)
T=0425 (2129/5008,1000G)
T=0318 (1227/3854,ALSPAC)
T=0317 (1174/3708,TWINSUK)

Position: chr1:63661333 (GRCh38.p7) (1p31.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 73 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.63661333C>T
GRCh37.p13 chr 1	NC_000001.10:g.64127004C>T
PGM1 RefSeqGene	NG_016966.1:g.73058C>T

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.289	T=0.711
1000Genomes	American	Sub	694	C=0.560	T=0.440
1000Genomes	East Asian	Sub	1008	C=0.757	T=0.243
1000Genomes	Europe	Sub	1006	C=0.622	T=0.378
1000Genomes	Global	Study-wide	5008	C=0.575	T=0.425
1000Genomes	South Asian	Sub	978	C=0.730	T=0.270
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.682	T=0.318
The Genome Aggregation Database	African	Sub	8708	C=0.340	T=0.660
The Genome Aggregation Database	American	Sub	836	C=0.590	T=0.410
The Genome Aggregation Database	East Asian	Sub	1618	C=0.768	T=0.232
The Genome Aggregation Database	Europe	Sub	18454	C=0.649	T=0.350
The Genome Aggregation Database	Global	Study-wide	29916	C=0.564	T=0.436
The Genome Aggregation Database	Other	Sub	300	C=0.660	T=0.340
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.533	T=0.466
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.683	T=0.317

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
rs855350	9.58E-07	alcohol consumption	21665994

eQTL of rs855350 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 rs855350 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	-48491
chr1	64078704	64079142	E067	-47862
chr1	64088634	64089292	E067	-37712
chr1	64078376	64078513	E068	-48491
chr1	64081448	64081915	E068	-45089
chr1	64082007	64082105	E068	-44899
chr1	64088634	64089292	E068	-37712
chr1	64139986	64141001	E068	12982
chr1	64078376	64078513	E069	-48491
chr1	64078704	64079142	E069	-47862
chr1	64081448	64081915	E069	-45089
chr1	64082007	64082105	E069	-44899
chr1	64156823	64156888	E069	29819
chr1	64157137	64157261	E069	30133
chr1	64163403	64163697	E069	36399
chr1	64163884	64164427	E069	36880
chr1	64165152	64165382	E069	38148
chr1	64108723	64108792	E070	-18212
chr1	64108901	64108951	E070	-18053
chr1	64108983	64109138	E070	-17866
chr1	64111546	64111722	E070	-15282
chr1	64168878	64169157	E070	41874
chr1	64169258	64169308	E070	42254
chr1	64169400	64169582	E070	42396
chr1	64081448	64081915	E071	-45089
chr1	64082007	64082105	E071	-44899
chr1	64082217	64082363	E071	-44641
chr1	64139986	64141001	E071	12982
chr1	64163203	64163347	E071	36199
chr1	64163403	64163697	E071	36399
chr1	64165152	64165382	E071	38148
chr1	64088634	64089292	E072	-37712
chr1	64089607	64090320	E072	-36684
chr1	64101428	64101659	E072	-25345
chr1	64102053	64102103	E072	-24901
chr1	64160611	64160818	E072	33607
chr1	64160918	64161040	E072	33914
chr1	64161077	64161221	E072	34073
chr1	64163203	64163347	E072	36199
chr1	64163403	64163697	E072	36399
chr1	64163884	64164427	E072	36880
chr1	64081448	64081915	E073	-45089
chr1	64082007	64082105	E073	-44899
chr1	64082007	64082105	E074	-44899
chr1	64082217	64082363	E074	-44641
chr1	64088634	64089292	E074	-37712
chr1	64091772	64091822	E074	-35182
chr1	64139986	64141001	E074	12982
chr1	64082007	64082105	E081	-44899
chr1	64082217	64082363	E081	-44641
chr1	64086499	64086636	E081	-40368
chr1	64086834	64087062	E081	-39942
chr1	64087157	64087315	E081	-39689
chr1	64087461	64087721	E081	-39283
chr1	64088634	64089292	E081	-37712
chr1	64090756	64090893	E081	-36111
chr1	64090914	64091024	E081	-35980
chr1	64109343	64110000	E081	-17004
chr1	64139986	64141001	E081	12982
chr1	64141023	64142025	E081	14019
chr1	64082007	64082105	E082	-44899
chr1	64082217	64082363	E082	-44641
chr1	64086499	64086636	E082	-40368
chr1	64086834	64087062	E082	-39942
chr1	64087157	64087315	E082	-39689
chr1	64087461	64087721	E082	-39283
chr1	64108901	64108951	E082	-18053
chr1	64108983	64109138	E082	-17866
chr1	64109343	64110000	E082	-17004
chr1	64111546	64111722	E082	-15282
chr1	64141023	64142025	E082	14019
chr1	64168878	64169157	E082	41874
chr1	64169258	64169308	E082	42254