rs386834234

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	3	Maple Syrup Urine Disease Type 1B carrier
(T;T)	5	Maple Syrup Urine Disease Type 1B

Reference

GRCh38 38.1/141

Chromosome

6

Position

80343739

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs386834234
dbSNP (classic)	rs386834234
ClinGen	rs386834234
ebi	rs386834234
HLI	rs386834234
Exac	rs386834234
Gnomad	rs386834234
Varsome	rs386834234
LitVar	rs386834234
Map	rs386834234
PheGenI	rs386834234
Biobank	rs386834234
1000 genomes	rs386834234
hgdp	rs386834234
ensembl	rs386834234
geneview	rs386834234
scholar	rs386834234
google	rs386834234
pharmgkb	rs386834234
gwascentral	rs386834234
openSNP	rs386834234
23andMe	rs386834234
SNPshot	rs386834234
SNPdbe	rs386834234
MSV3d	rs386834234
GWAS Ctlg	rs386834234

Max Magnitude

5

ClinVar
Risk	Rs386834234(T;T)
Alt	Rs386834234(T;T)
Reference	Rs386834234(G;G)
Significance	Other
Disease	Maple syrup urine disease not provided
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease not provided
Reversed	0
HGVS	NC_000006.11:g.81053456G>T
CLNSRC	GTR
CLNACC	RCV000056007.2, RCV000082726.3,