rs386834233

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

80201023

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs386834233
dbSNP (classic)	rs386834233
ClinGen	rs386834233
ebi	rs386834233
HLI	rs386834233
Exac	rs386834233
Gnomad	rs386834233
Varsome	rs386834233
LitVar	rs386834233
Map	rs386834233
PheGenI	rs386834233
Biobank	rs386834233
1000 genomes	rs386834233
hgdp	rs386834233
ensembl	rs386834233
geneview	rs386834233
scholar	rs386834233
google	rs386834233
pharmgkb	rs386834233
gwascentral	rs386834233
openSNP	rs386834233
23andMe	rs386834233
SNPshot	rs386834233
SNPdbe	rs386834233
MSV3d	rs386834233
GWAS Ctlg	rs386834233

Merged from

Rs150084361

Max Magnitude

5

aka c.832G>A (p.Gly278Ser)

ClinVar
Risk	Rs386834233(A;A)
Alt	Rs386834233(A;A)
Reference	Rs386834233(G;G)
Significance	Pathogenic
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.80910740G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000056009.2, RCV000082770.3,