rs398124577

Orientation

plus

Stabilized

plus

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

Make rs398124577(A;T)

Make rs398124577(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80168885

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124577
dbSNP (classic)	rs398124577
ClinGen	rs398124577
ebi	rs398124577
HLI	rs398124577
Exac	rs398124577
Gnomad	rs398124577
Varsome	rs398124577
LitVar	rs398124577
Map	rs398124577
PheGenI	rs398124577
Biobank	rs398124577
1000 genomes	rs398124577
hgdp	rs398124577
ensembl	rs398124577
geneview	rs398124577
scholar	rs398124577
google	rs398124577
pharmgkb	rs398124577
gwascentral	rs398124577
openSNP	rs398124577
23andMe	rs398124577
SNPshot	rs398124577
SNPdbe	rs398124577
MSV3d	rs398124577
GWAS Ctlg	rs398124577

Max Magnitude

0

ClinVar
Risk	rs398124577(T;T)
Alt	rs398124577(T;T)
Reference	Rs398124577(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.80878602A>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000082742.3, RCV000179046.1,