rs398124561

Orientation

plus

Stabilized

plus

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

Make rs398124561(C;T)

Make rs398124561(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80273199

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124561
dbSNP (classic)	rs398124561
ClinGen	rs398124561
ebi	rs398124561
HLI	rs398124561
Exac	rs398124561
Gnomad	rs398124561
Varsome	rs398124561
LitVar	rs398124561
Map	rs398124561
PheGenI	rs398124561
Biobank	rs398124561
1000 genomes	rs398124561
hgdp	rs398124561
ensembl	rs398124561
geneview	rs398124561
scholar	rs398124561
google	rs398124561
pharmgkb	rs398124561
gwascentral	rs398124561
openSNP	rs398124561
23andMe	rs398124561
SNPshot	rs398124561
SNPdbe	rs398124561
MSV3d	rs398124561
GWAS Ctlg	rs398124561

Max Magnitude

0

ClinVar
Risk	rs398124561(T;T)
Alt	rs398124561(T;T)
Reference	Rs398124561(C;C)
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.80982916C>T
CLNSRC	HGMD
CLNACC	RCV000082720.3, RCV000180715.1,