rs398124582

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs398124582(A;T)

Make rs398124582(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80168923

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124582
dbSNP (classic)	rs398124582
ClinGen	rs398124582
ebi	rs398124582
HLI	rs398124582
Exac	rs398124582
Gnomad	rs398124582
Varsome	rs398124582
LitVar	rs398124582
Map	rs398124582
PheGenI	rs398124582
Biobank	rs398124582
1000 genomes	rs398124582
hgdp	rs398124582
ensembl	rs398124582
geneview	rs398124582
scholar	rs398124582
google	rs398124582
pharmgkb	rs398124582
gwascentral	rs398124582
openSNP	rs398124582
23andMe	rs398124582
SNPshot	rs398124582
SNPdbe	rs398124582
MSV3d	rs398124582
GWAS Ctlg	rs398124582

Max Magnitude

0

ClinVar
Risk	rs398124582(T;T)
Alt	rs398124582(T;T)
Reference	Rs398124582(A;A)
Significance	Pathogenic
Disease	not provided Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	not provided Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.80878640A>T
CLNSRC	HGMD
CLNACC	RCV000082751.3, RCV000179049.1,