rs1057516781

Orientation

plus

Stabilized

plus

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

Make rs1057516781(-;-)

Make rs1057516781(-;GGCTGCCGGC)

Make rs1057516781(GGCTGCCGGC;GGCTGCCGGC)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

80106711

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs1057516781
dbSNP (classic)	rs1057516781
ClinGen	rs1057516781
ebi	rs1057516781
HLI	rs1057516781
Exac	rs1057516781
Gnomad	rs1057516781
Varsome	rs1057516781
LitVar	rs1057516781
Map	rs1057516781
PheGenI	rs1057516781
Biobank	rs1057516781
1000 genomes	rs1057516781
hgdp	rs1057516781
ensembl	rs1057516781
geneview	rs1057516781
scholar	rs1057516781
google	rs1057516781
pharmgkb	rs1057516781
gwascentral	rs1057516781
openSNP	rs1057516781
23andMe	rs1057516781
SNPshot	rs1057516781
SNPdbe	rs1057516781
MSV3d	rs1057516781
GWAS Ctlg	rs1057516781

Max Magnitude

0

ClinVar
Risk	rs1057516781(-;-)
Alt	rs1057516781(-;-)
Reference	Rs1057516781(CGGCGGCTGC;CGGCGGCTGC)
Significance	Probable-Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.80816428_80816437delGGCTGCCGGC
CLNSRC
CLNACC	RCV000411585.1,