rs398124572

Orientation

plus

Stabilized

plus

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

Make rs398124572(-;-)

Make rs398124572(-;AC)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80106726

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124572
dbSNP (classic)	rs398124572
ClinGen	rs398124572
ebi	rs398124572
HLI	rs398124572
Exac	rs398124572
Gnomad	rs398124572
Varsome	rs398124572
LitVar	rs398124572
Map	rs398124572
PheGenI	rs398124572
Biobank	rs398124572
1000 genomes	rs398124572
hgdp	rs398124572
ensembl	rs398124572
geneview	rs398124572
scholar	rs398124572
google	rs398124572
pharmgkb	rs398124572
gwascentral	rs398124572
openSNP	rs398124572
23andMe	rs398124572
SNPshot	rs398124572
SNPdbe	rs398124572
MSV3d	rs398124572
GWAS Ctlg	rs398124572

Max Magnitude

0

ClinVar
Risk	rs398124572(-;-)
Alt	rs398124572(-;-)
Reference	Rs398124572(AC;AC)
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.80816443_80816444delAC
CLNSRC	ClinVar
CLNACC	RCV000082736.3, RCV000173587.1,