rs398124602

Orientation

plus

Stabilized

plus

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

Make rs398124602(A;A)

Make rs398124602(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80273134

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124602
dbSNP (classic)	rs398124602
ClinGen	rs398124602
ebi	rs398124602
HLI	rs398124602
Exac	rs398124602
Gnomad	rs398124602
Varsome	rs398124602
LitVar	rs398124602
Map	rs398124602
PheGenI	rs398124602
Biobank	rs398124602
1000 genomes	rs398124602
hgdp	rs398124602
ensembl	rs398124602
geneview	rs398124602
scholar	rs398124602
google	rs398124602
pharmgkb	rs398124602
gwascentral	rs398124602
openSNP	rs398124602
23andMe	rs398124602
SNPshot	rs398124602
SNPdbe	rs398124602
MSV3d	rs398124602
GWAS Ctlg	rs398124602

Max Magnitude

0

ClinVar
Risk	rs398124602(A;A)
Alt	rs398124602(A;A)
Reference	Rs398124602(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.80982851G>A
CLNSRC	ClinVar
CLNACC	RCV000082780.3, RCV000180714.1,