rs1057517414

Orientation

plus

Stabilized

plus

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

Make rs1057517414(-;-)

Make rs1057517414(-;CAGAGGCGGCA)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

80106832

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs1057517414
dbSNP (classic)	rs1057517414
ClinGen	rs1057517414
ebi	rs1057517414
HLI	rs1057517414
Exac	rs1057517414
Gnomad	rs1057517414
Varsome	rs1057517414
LitVar	rs1057517414
Map	rs1057517414
PheGenI	rs1057517414
Biobank	rs1057517414
1000 genomes	rs1057517414
hgdp	rs1057517414
ensembl	rs1057517414
geneview	rs1057517414
scholar	rs1057517414
google	rs1057517414
pharmgkb	rs1057517414
gwascentral	rs1057517414
openSNP	rs1057517414
23andMe	rs1057517414
SNPshot	rs1057517414
SNPdbe	rs1057517414
MSV3d	rs1057517414
GWAS Ctlg	rs1057517414

Max Magnitude

0

ClinVar
Risk	rs1057517414(-;-)
Alt	rs1057517414(-;-)
Reference	Rs1057517414(CAGAGGCGGCA;CAGAGGCGGCA)
Significance	Probable-Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.80816549_80816559delCAGAGGCGGCA
CLNSRC
CLNACC	RCV000411913.1,