rs398124604

Orientation

plus

Stabilized

plus

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

Make rs398124604(G;G)

Make rs398124604(G;T)

Reference

GRCh38.p7 38.3/149

Chromosome

6

Position

80273157

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124604
dbSNP (classic)	rs398124604
ClinGen	rs398124604
ebi	rs398124604
HLI	rs398124604
Exac	rs398124604
Gnomad	rs398124604
Varsome	rs398124604
LitVar	rs398124604
Map	rs398124604
PheGenI	rs398124604
Biobank	rs398124604
1000 genomes	rs398124604
hgdp	rs398124604
ensembl	rs398124604
geneview	rs398124604
scholar	rs398124604
google	rs398124604
pharmgkb	rs398124604
gwascentral	rs398124604
openSNP	rs398124604
23andMe	rs398124604
SNPshot	rs398124604
SNPdbe	rs398124604
MSV3d	rs398124604
GWAS Ctlg	rs398124604

Max Magnitude

0

ClinVar
Risk	rs398124604(G;G)
Alt	rs398124604(G;G)
Reference	Rs398124604(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.80982874T>G
CLNSRC
CLNACC	RCV000082782.4, RCV000346636.1,