SNP Detail Info-rs6562646

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

LOC105370255 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0242 (7235/29894,GnomAD)
C==0269 (7839/29116,TOPMED)
C==0335 (1676/5008,1000G)
C==0215 (828/3854,ALSPAC)
C==0211 (784/3708,TWINSUK)

Position: chr13:70769146 (GRCh38.p7) (13q21.33)

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 13	NC_000013.11:g.70769146C>A
GRCh37.p13 chr 13	NC_000013.10:g.71343278C>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370255 transcript variant X1	XR_942058.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.328	A=0.672
1000Genomes	American	Sub	694	C=0.250	A=0.750
1000Genomes	East Asian	Sub	1008	C=0.461	A=0.539
1000Genomes	Europe	Sub	1006	C=0.234	A=0.766
1000Genomes	Global	Study-wide	5008	C=0.335	A=0.665
1000Genomes	South Asian	Sub	978	C=0.380	A=0.620
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.215	A=0.785
The Genome Aggregation Database	African	Sub	8706	C=0.280	A=0.720
The Genome Aggregation Database	American	Sub	836	C=0.280	A=0.720
The Genome Aggregation Database	East Asian	Sub	1608	C=0.461	A=0.539
The Genome Aggregation Database	Europe	Sub	18442	C=0.203	A=0.797
The Genome Aggregation Database	Global	Study-wide	29894	C=0.242	A=0.758
The Genome Aggregation Database	Other	Sub	302	C=0.270	A=0.730
Trans-Omics for Precision Medicine	Global	Study-wide	29116	C=0.269	A=0.730
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.211	A=0.789

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr13	71321094	71321144	E081	-22134
chr13	71321337	71321387	E081	-21891
chr13	71321405	71321679	E081	-21599

rs6562646