rs1057517124

Orientation

plus

Stabilized

plus

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

Make rs1057517124(-;-)

Make rs1057517124(-;C)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

80203114

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs1057517124
dbSNP (classic)	rs1057517124
ClinGen	rs1057517124
ebi	rs1057517124
HLI	rs1057517124
Exac	rs1057517124
Gnomad	rs1057517124
Varsome	rs1057517124
LitVar	rs1057517124
Map	rs1057517124
PheGenI	rs1057517124
Biobank	rs1057517124
1000 genomes	rs1057517124
hgdp	rs1057517124
ensembl	rs1057517124
geneview	rs1057517124
scholar	rs1057517124
google	rs1057517124
pharmgkb	rs1057517124
gwascentral	rs1057517124
openSNP	rs1057517124
23andMe	rs1057517124
SNPshot	rs1057517124
SNPdbe	rs1057517124
MSV3d	rs1057517124
GWAS Ctlg	rs1057517124

Max Magnitude

0

ClinVar
Risk	rs1057517124(-;-)
Alt	rs1057517124(-;-)
Reference	Rs1057517124(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.80912831delC
CLNSRC
CLNACC	RCV000410450.1,