rs1060499715

Orientation

plus

Stabilized

plus

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

Make rs1060499715(A;A)

Make rs1060499715(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

80343715

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs1060499715
dbSNP (classic)	rs1060499715
ClinGen	rs1060499715
ebi	rs1060499715
HLI	rs1060499715
Exac	rs1060499715
Gnomad	rs1060499715
Varsome	rs1060499715
LitVar	rs1060499715
Map	rs1060499715
PheGenI	rs1060499715
Biobank	rs1060499715
1000 genomes	rs1060499715
hgdp	rs1060499715
ensembl	rs1060499715
geneview	rs1060499715
scholar	rs1060499715
google	rs1060499715
pharmgkb	rs1060499715
gwascentral	rs1060499715
openSNP	rs1060499715
23andMe	rs1060499715
SNPshot	rs1060499715
SNPdbe	rs1060499715
MSV3d	rs1060499715
GWAS Ctlg	rs1060499715

Max Magnitude

0

ClinVar
Risk	rs1060499715(A;A)
Alt	rs1060499715(A;A)
Reference	Rs1060499715(G;G)
Significance	Probable-Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.81053432G>A
CLNSRC
CLNACC	RCV000449516.1,