rs398124571

Orientation

plus

Stabilized

plus

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

Make rs398124571(A;A)

Make rs398124571(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80129188

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124571
dbSNP (classic)	rs398124571
ClinGen	rs398124571
ebi	rs398124571
HLI	rs398124571
Exac	rs398124571
Gnomad	rs398124571
Varsome	rs398124571
LitVar	rs398124571
Map	rs398124571
PheGenI	rs398124571
Biobank	rs398124571
1000 genomes	rs398124571
hgdp	rs398124571
ensembl	rs398124571
geneview	rs398124571
scholar	rs398124571
google	rs398124571
pharmgkb	rs398124571
gwascentral	rs398124571
openSNP	rs398124571
23andMe	rs398124571
SNPshot	rs398124571
SNPdbe	rs398124571
MSV3d	rs398124571
GWAS Ctlg	rs398124571

Max Magnitude

0

ClinVar
Risk	rs398124571(A;A)
Alt	rs398124571(A;A)
Reference	Rs398124571(G;G)
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.80838905G>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000082734.3, RCV000177427.1,