rs398124581

Orientation

plus

Stabilized

plus

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

Make rs398124581(A;A)

Make rs398124581(A;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80168905

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124581
dbSNP (classic)	rs398124581
ClinGen	rs398124581
ebi	rs398124581
HLI	rs398124581
Exac	rs398124581
Gnomad	rs398124581
Varsome	rs398124581
LitVar	rs398124581
Map	rs398124581
PheGenI	rs398124581
Biobank	rs398124581
1000 genomes	rs398124581
hgdp	rs398124581
ensembl	rs398124581
geneview	rs398124581
scholar	rs398124581
google	rs398124581
pharmgkb	rs398124581
gwascentral	rs398124581
openSNP	rs398124581
23andMe	rs398124581
SNPshot	rs398124581
SNPdbe	rs398124581
MSV3d	rs398124581
GWAS Ctlg	rs398124581

Max Magnitude

0

ClinVar
Risk	rs398124581(A;A) rs398124581(G;G) rs398124581(T;T)
Alt	rs398124581(A;A) rs398124581(G;G) rs398124581(T;T)
Reference	Rs398124581(C;C)
Significance	Probable-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.80878622C>A; NC_000006.11:g.80878622C>G; NC_000006.11:g.80878622C>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000082746.3, RCV000179040.1, RCV000082747.3, RCV000179045.1, RCV000082748.3, RCV000179043.1,