rs1057516799

Orientation

plus

Stabilized

plus

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

Make rs1057516799(G;T)

Make rs1057516799(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

80168884

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs1057516799
dbSNP (classic)	rs1057516799
ClinGen	rs1057516799
ebi	rs1057516799
HLI	rs1057516799
Exac	rs1057516799
Gnomad	rs1057516799
Varsome	rs1057516799
LitVar	rs1057516799
Map	rs1057516799
PheGenI	rs1057516799
Biobank	rs1057516799
1000 genomes	rs1057516799
hgdp	rs1057516799
ensembl	rs1057516799
geneview	rs1057516799
scholar	rs1057516799
google	rs1057516799
pharmgkb	rs1057516799
gwascentral	rs1057516799
openSNP	rs1057516799
23andMe	rs1057516799
SNPshot	rs1057516799
SNPdbe	rs1057516799
MSV3d	rs1057516799
GWAS Ctlg	rs1057516799

Max Magnitude

0

ClinVar
Risk	rs1057516799(T;T)
Alt	rs1057516799(T;T)
Reference	Rs1057516799(G;G)
Significance	Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.80878601G>T
CLNSRC
CLNACC	RCV000409047.1,