rs1057516572

Orientation

plus

Stabilized

plus

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

Make rs1057516572(-;-)

Make rs1057516572(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

80171378

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs1057516572
dbSNP (classic)	rs1057516572
ClinGen	rs1057516572
ebi	rs1057516572
HLI	rs1057516572
Exac	rs1057516572
Gnomad	rs1057516572
Varsome	rs1057516572
LitVar	rs1057516572
Map	rs1057516572
PheGenI	rs1057516572
Biobank	rs1057516572
1000 genomes	rs1057516572
hgdp	rs1057516572
ensembl	rs1057516572
geneview	rs1057516572
scholar	rs1057516572
google	rs1057516572
pharmgkb	rs1057516572
gwascentral	rs1057516572
openSNP	rs1057516572
23andMe	rs1057516572
SNPshot	rs1057516572
SNPdbe	rs1057516572
MSV3d	rs1057516572
GWAS Ctlg	rs1057516572

Max Magnitude

0

ClinVar
Risk	rs1057516572(-;-)
Alt	rs1057516572(-;-)
Reference	Rs1057516572(T;T)
Significance	Probable-Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.80881095delT
CLNSRC
CLNACC	RCV000411844.1,