rs398124600

Orientation

plus

Stabilized

plus

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

Make rs398124600(G;G)

Make rs398124600(G;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80203163

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124600
dbSNP (classic)	rs398124600
ClinGen	rs398124600
ebi	rs398124600
HLI	rs398124600
Exac	rs398124600
Gnomad	rs398124600
Varsome	rs398124600
LitVar	rs398124600
Map	rs398124600
PheGenI	rs398124600
Biobank	rs398124600
1000 genomes	rs398124600
hgdp	rs398124600
ensembl	rs398124600
geneview	rs398124600
scholar	rs398124600
google	rs398124600
pharmgkb	rs398124600
gwascentral	rs398124600
openSNP	rs398124600
23andMe	rs398124600
SNPshot	rs398124600
SNPdbe	rs398124600
MSV3d	rs398124600
GWAS Ctlg	rs398124600

Max Magnitude

0

ClinVar
Risk	rs398124600(G;G)
Alt	rs398124600(G;G)
Reference	Rs398124600(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.80912880T>G
CLNSRC	ClinVar Emory University
CLNACC	RCV000082777.3, RCV000180384.1,