rs1057516731

Orientation

plus

Stabilized

plus

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

Make rs1057516731(-;-)

Make rs1057516731(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

80106790

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs1057516731
dbSNP (classic)	rs1057516731
ClinGen	rs1057516731
ebi	rs1057516731
HLI	rs1057516731
Exac	rs1057516731
Gnomad	rs1057516731
Varsome	rs1057516731
LitVar	rs1057516731
Map	rs1057516731
PheGenI	rs1057516731
Biobank	rs1057516731
1000 genomes	rs1057516731
hgdp	rs1057516731
ensembl	rs1057516731
geneview	rs1057516731
scholar	rs1057516731
google	rs1057516731
pharmgkb	rs1057516731
gwascentral	rs1057516731
openSNP	rs1057516731
23andMe	rs1057516731
SNPshot	rs1057516731
SNPdbe	rs1057516731
MSV3d	rs1057516731
GWAS Ctlg	rs1057516731

Max Magnitude

0

ClinVar
Risk	rs1057516731(-;-)
Alt	rs1057516731(-;-)
Reference	Rs1057516731(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.80816507delC
CLNSRC
CLNACC	RCV000409161.1,