rs398124594

Orientation

plus

Stabilized

plus

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

Make rs398124594(C;T)

Make rs398124594(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80200990

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124594
dbSNP (classic)	rs398124594
ClinGen	rs398124594
ebi	rs398124594
HLI	rs398124594
Exac	rs398124594
Gnomad	rs398124594
Varsome	rs398124594
LitVar	rs398124594
Map	rs398124594
PheGenI	rs398124594
Biobank	rs398124594
1000 genomes	rs398124594
hgdp	rs398124594
ensembl	rs398124594
geneview	rs398124594
scholar	rs398124594
google	rs398124594
pharmgkb	rs398124594
gwascentral	rs398124594
openSNP	rs398124594
23andMe	rs398124594
SNPshot	rs398124594
SNPdbe	rs398124594
MSV3d	rs398124594
GWAS Ctlg	rs398124594

Max Magnitude

0

ClinVar
Risk	rs398124594(G;G) rs398124594(T;T)
Alt	rs398124594(G;G) rs398124594(T;T)
Reference	Rs398124594(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.80910707C>T
CLNSRC	HGMD
CLNACC	RCV000082768.5, RCV000169389.2,