rs1085307058

Orientation

plus

Stabilized

plus

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

Chromosome

6

Position

80167702

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs1085307058
dbSNP (classic)	rs1085307058
ClinGen	rs1085307058
ebi	rs1085307058
HLI	rs1085307058
Exac	rs1085307058
Gnomad	rs1085307058
Varsome	rs1085307058
LitVar	rs1085307058
Map	rs1085307058
PheGenI	rs1085307058
Biobank	rs1085307058
1000 genomes	rs1085307058
hgdp	rs1085307058
ensembl	rs1085307058
geneview	rs1085307058
scholar	rs1085307058
google	rs1085307058
pharmgkb	rs1085307058
gwascentral	rs1085307058
openSNP	rs1085307058
23andMe	rs1085307058
SNPshot	rs1085307058
SNPdbe	rs1085307058
MSV3d	rs1085307058
GWAS Ctlg	rs1085307058

Max Magnitude

0

ClinVar
Risk	rs1085307058(-;-)
Alt	rs1085307058(-;-)
Reference	Rs1085307058(C;C)
Significance	Probable-Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.80877419delC
CLNSRC
CLNACC	RCV000490444.1,