rs978814

Organism: Homo sapiens

Alleles: C>A

Gene : Feature

BCKDHB : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0353 (10568/29910,GnomAD)
A=0307 (8955/29118,TOPMED)
A=0385 (1930/5008,1000G)
A=0447 (1724/3854,ALSPAC)
A=0436 (1615/3708,TWINSUK)

Position: chr6:80250195 (GRCh38.p7) (6q14.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 17 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 6	NC_000006.12:g.80250195C>A
GRCh37.p13 chr 6	NC_000006.11:g.80959912C>A
BCKDHB RefSeqGene	NG_009775.1:g.148569C>A

Gene: BCKDHB, branched chain keto acid dehydrogenase E1, beta polypeptide(plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BCKDHB transcript variant 2	NM_000056.4:c.	N/A	Intron Variant
BCKDHB transcript variant 3	NM_001318975.1:c.	N/A	Intron Variant
BCKDHB transcript variant 1	NM_183050.3:c.	N/A	Intron Variant
BCKDHB transcript variant 4	NR_134945.1:n.	N/A	Intron Variant
BCKDHB transcript variant X2	XM_005248756.4:c.	N/A	Intron Variant
BCKDHB transcript variant X5	XM_011536023.2:c.	N/A	Intron Variant
BCKDHB transcript variant X7	XM_011536024.2:c.	N/A	Intron Variant
BCKDHB transcript variant X8	XM_011536025.2:c.	N/A	Intron Variant
BCKDHB transcript variant X9	XM_011536026.2:c.	N/A	Intron Variant
BCKDHB transcript variant X1	XR_001743546.1:n.	N/A	Intron Variant
BCKDHB transcript variant X3	XR_001743547.1:n.	N/A	Intron Variant
BCKDHB transcript variant X4	XR_001743548.1:n.	N/A	Intron Variant
BCKDHB transcript variant X6	XR_001743549.1:n.	N/A	Intron Variant

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 )
chr6	80964352	80964402	E067	4440
chr6	80964487	80964643	E067	4575
chr6	80978330	80978551	E067	18418
chr6	80978966	80979066	E067	19054
chr6	80977692	80977816	E068	17780
chr6	80956829	80957013	E071	-2899
chr6	80957369	80957551	E071	-2361
chr6	80964352	80964402	E071	4440
chr6	80964487	80964643	E071	4575
chr6	80964352	80964402	E072	4440
chr6	80964487	80964643	E072	4575
chr6	80956829	80957013	E074	-2899
chr6	80957369	80957551	E074	-2361
chr6	80964352	80964402	E074	4440
chr6	80978330	80978551	E074	18418
chr6	80986310	80986364	E082	26398
chr6	80986677	80986794	E082	26765