SNP Detail Info-rs13251382

Organism: Homo sapiens

Alleles: A>G / A>T

Gene : Feature

KCNB2 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0480 (14357/29868,GnomAD)
G=0462 (13480/29118,TOPMED)
G=0378 (1891/5008,1000G)
A==0420 (1619/3854,ALSPAC)
A==0433 (1607/3708,TWINSUK)

Position: chr8:72922542 (GRCh38.p7) (8q21.11)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
KCNB2 transcript	NM_004770.2:c.	N/A	Intron Variant
KCNB2 transcript variant X3	XM_017013981.1:c.	N/A	Intron Variant
KCNB2 transcript variant X4	XM_017013982.1:c.	N/A	Genic Upstream Transcript Variant
KCNB2 transcript variant X1	XR_001745620.1:n.	N/A	Intron Variant
KCNB2 transcript variant X2	XR_001745621.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.641	G=0.359
1000Genomes	American	Sub	694	A=0.640	G=0.360
1000Genomes	East Asian	Sub	1008	A=0.874	G=0.126
1000Genomes	Europe	Sub	1006	A=0.454	G=0.546
1000Genomes	Global	Study-wide	5008	A=0.622	G=0.378
1000Genomes	South Asian	Sub	978	A=0.500	G=0.500
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.420	G=0.580
The Genome Aggregation Database	African	Sub	8686	A=0.626	G=0.374
The Genome Aggregation Database	American	Sub	836	A=0.670	G=0.33,
The Genome Aggregation Database	East Asian	Sub	1606	A=0.856	G=0.144
The Genome Aggregation Database	Europe	Sub	18438	A=0.435	G=0.564
The Genome Aggregation Database	Global	Study-wide	29868	A=0.519	G=0.480
The Genome Aggregation Database	Other	Sub	302	A=0.360	G=0.64,
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.537	G=0.462
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.433	G=0.567

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr8	87586791	87586845	E070	-35532
chr8	87638696	87638899	E070	16319

rs13251382