SNP Detail Info-rs2165387

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

LINC00989 : Intron Variant
LOC107986294 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0287 (8590/29912,GnomAD)
T==0293 (8539/29118,TOPMED)
T==0387 (1936/5008,1000G)
T==0261 (1004/3854,ALSPAC)
T==0239 (886/3708,TWINSUK)

Position: chr4:79570666 (GRCh38.p7) (4q21.21)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 3 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 4	NC_000004.12:g.79570666T>C
GRCh37.p13 chr 4	NC_000004.11:g.80491820T>C

Molecule type	Change	Amino acid[Codon]	SO Term
LINC00989 transcript	NR_038826.1:n.	N/A	Intron Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC107986294 transcript	XR_001741747.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	T=0.362	C=0.638
1000Genomes	American	Sub	694	T=0.240	C=0.760
1000Genomes	East Asian	Sub	1008	T=0.441	C=0.559
1000Genomes	Europe	Sub	1006	T=0.240	C=0.760
1000Genomes	Global	Study-wide	5008	T=0.387	C=0.613
1000Genomes	South Asian	Sub	978	T=0.620	C=0.380
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.261	C=0.739
The Genome Aggregation Database	African	Sub	8698	T=0.347	C=0.653
The Genome Aggregation Database	American	Sub	838	T=0.260	C=0.740
The Genome Aggregation Database	East Asian	Sub	1608	T=0.444	C=0.556
The Genome Aggregation Database	Europe	Sub	18466	T=0.247	C=0.752
The Genome Aggregation Database	Global	Study-wide	29912	T=0.287	C=0.712
The Genome Aggregation Database	Other	Sub	302	T=0.220	C=0.780
Trans-Omics for Precision Medicine	Global	Study-wide	29118	T=0.293	C=0.706
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.239	C=0.761

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr4	80447860	80448215	E081	-43605
chr4	80448289	80448568	E082	-43252
chr4	80530894	80531002	E082	39074

rs2165387