rs398124598

Orientation

plus

Stabilized

plus

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

Make rs398124598(C;T)

Make rs398124598(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80203114

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124598
dbSNP (classic)	rs398124598
ClinGen	rs398124598
ebi	rs398124598
HLI	rs398124598
Exac	rs398124598
Gnomad	rs398124598
Varsome	rs398124598
LitVar	rs398124598
Map	rs398124598
PheGenI	rs398124598
Biobank	rs398124598
1000 genomes	rs398124598
hgdp	rs398124598
ensembl	rs398124598
geneview	rs398124598
scholar	rs398124598
google	rs398124598
pharmgkb	rs398124598
gwascentral	rs398124598
openSNP	rs398124598
23andMe	rs398124598
SNPshot	rs398124598
SNPdbe	rs398124598
MSV3d	rs398124598
GWAS Ctlg	rs398124598

Max Magnitude

0

ClinVar
Risk	rs398124598(T;T)
Alt	rs398124598(T;T)
Reference	Rs398124598(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.80912831C>T
CLNSRC	HGMD
CLNACC	RCV000082775.3, RCV000169304.2,