rs398124589

Orientation

plus

Stabilized

plus

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

Make rs398124589(A;A)

Make rs398124589(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80169031

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124589
dbSNP (classic)	rs398124589
ClinGen	rs398124589
ebi	rs398124589
HLI	rs398124589
Exac	rs398124589
Gnomad	rs398124589
Varsome	rs398124589
LitVar	rs398124589
Map	rs398124589
PheGenI	rs398124589
Biobank	rs398124589
1000 genomes	rs398124589
hgdp	rs398124589
ensembl	rs398124589
geneview	rs398124589
scholar	rs398124589
google	rs398124589
pharmgkb	rs398124589
gwascentral	rs398124589
openSNP	rs398124589
23andMe	rs398124589
SNPshot	rs398124589
SNPdbe	rs398124589
MSV3d	rs398124589
GWAS Ctlg	rs398124589

Max Magnitude

0

ClinVar
Risk	rs398124589(A;A)
Alt	rs398124589(A;A)
Reference	Rs398124589(G;G)
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.80878748G>A
CLNSRC	ClinVar
CLNACC	RCV000082761.3, RCV000179048.1,