rs398124587

Orientation

plus

Stabilized

plus

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

Make rs398124587(-;-)

Make rs398124587(-;AG)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80168992

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124587
dbSNP (classic)	rs398124587
ClinGen	rs398124587
ebi	rs398124587
HLI	rs398124587
Exac	rs398124587
Gnomad	rs398124587
Varsome	rs398124587
LitVar	rs398124587
Map	rs398124587
PheGenI	rs398124587
Biobank	rs398124587
1000 genomes	rs398124587
hgdp	rs398124587
ensembl	rs398124587
geneview	rs398124587
scholar	rs398124587
google	rs398124587
pharmgkb	rs398124587
gwascentral	rs398124587
openSNP	rs398124587
23andMe	rs398124587
SNPshot	rs398124587
SNPdbe	rs398124587
MSV3d	rs398124587
GWAS Ctlg	rs398124587

Max Magnitude

0

ClinVar
Risk	rs398124587(-;-)
Alt	rs398124587(-;-)
Reference	Rs398124587(AG;AG)
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.80878709_80878710delAG
CLNSRC	HGMD
CLNACC	RCV000082758.3, RCV000179041.1,