rs1057516795

Orientation

plus

Stabilized

plus

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

Make rs1057516795(-;-)

Make rs1057516795(-;CCTGGCGCGGG)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

80106772

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs1057516795
dbSNP (classic)	rs1057516795
ClinGen	rs1057516795
ebi	rs1057516795
HLI	rs1057516795
Exac	rs1057516795
Gnomad	rs1057516795
Varsome	rs1057516795
LitVar	rs1057516795
Map	rs1057516795
PheGenI	rs1057516795
Biobank	rs1057516795
1000 genomes	rs1057516795
hgdp	rs1057516795
ensembl	rs1057516795
geneview	rs1057516795
scholar	rs1057516795
google	rs1057516795
pharmgkb	rs1057516795
gwascentral	rs1057516795
openSNP	rs1057516795
23andMe	rs1057516795
SNPshot	rs1057516795
SNPdbe	rs1057516795
MSV3d	rs1057516795
GWAS Ctlg	rs1057516795

Max Magnitude

0

ClinVar
Risk	rs1057516795(-;-)
Alt	rs1057516795(-;-)
Reference	Rs1057516795(CCTGGCGCGGG;CCTGGCGCGGG)
Significance	Probable-Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.80816489_80816499delCCTGGCGCGGG
CLNSRC
CLNACC	RCV000410202.1,