rs398124586

Orientation

plus

Stabilized

plus

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

Make rs398124586(-;-)

Make rs398124586(-;CA)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80168989

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124586
dbSNP (classic)	rs398124586
ClinGen	rs398124586
ebi	rs398124586
HLI	rs398124586
Exac	rs398124586
Gnomad	rs398124586
Varsome	rs398124586
LitVar	rs398124586
Map	rs398124586
PheGenI	rs398124586
Biobank	rs398124586
1000 genomes	rs398124586
hgdp	rs398124586
ensembl	rs398124586
geneview	rs398124586
scholar	rs398124586
google	rs398124586
pharmgkb	rs398124586
gwascentral	rs398124586
openSNP	rs398124586
23andMe	rs398124586
SNPshot	rs398124586
SNPdbe	rs398124586
MSV3d	rs398124586
GWAS Ctlg	rs398124586

Max Magnitude

0

ClinVar
Risk	rs398124586(-;-)
Alt	rs398124586(-;-)
Reference	Rs398124586(CA;CA)
Significance	Pathogenic
Disease	not provided Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	not provided Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.80878706_80878707delCA
CLNSRC	ClinVar
CLNACC	RCV000082757.3, RCV000179042.1,