rs398124603

Orientation

plus

Stabilized

plus

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

Make rs398124603(C;T)

Make rs398124603(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80273153

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124603
dbSNP (classic)	rs398124603
ClinGen	rs398124603
ebi	rs398124603
HLI	rs398124603
Exac	rs398124603
Gnomad	rs398124603
Varsome	rs398124603
LitVar	rs398124603
Map	rs398124603
PheGenI	rs398124603
Biobank	rs398124603
1000 genomes	rs398124603
hgdp	rs398124603
ensembl	rs398124603
geneview	rs398124603
scholar	rs398124603
google	rs398124603
pharmgkb	rs398124603
gwascentral	rs398124603
openSNP	rs398124603
23andMe	rs398124603
SNPshot	rs398124603
SNPdbe	rs398124603
MSV3d	rs398124603
GWAS Ctlg	rs398124603

Max Magnitude

0

ClinVar
Risk	rs398124603(T;T)
Alt	rs398124603(T;T)
Reference	Rs398124603(C;C)
Significance	Other
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.80982870C>T
CLNSRC	HGMD
CLNACC	RCV000082781.3, RCV000169351.3,