rs398124576

Orientation

plus

Stabilized

plus

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

Make rs398124576(G;G)

Make rs398124576(G;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80168876

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124576
dbSNP (classic)	rs398124576
ClinGen	rs398124576
ebi	rs398124576
HLI	rs398124576
Exac	rs398124576
Gnomad	rs398124576
Varsome	rs398124576
LitVar	rs398124576
Map	rs398124576
PheGenI	rs398124576
Biobank	rs398124576
1000 genomes	rs398124576
hgdp	rs398124576
ensembl	rs398124576
geneview	rs398124576
scholar	rs398124576
google	rs398124576
pharmgkb	rs398124576
gwascentral	rs398124576
openSNP	rs398124576
23andMe	rs398124576
SNPshot	rs398124576
SNPdbe	rs398124576
MSV3d	rs398124576
GWAS Ctlg	rs398124576

Max Magnitude

0

ClinVar
Risk	rs398124576(G;G)
Alt	rs398124576(G;G)
Reference	Rs398124576(T;T)
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.80878593T>G
CLNSRC	ClinVar Emory University
CLNACC	RCV000082741.3, RCV000179044.1,