rs398124592

Orientation

plus

Stabilized

plus

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

Make rs398124592(G;T)

Make rs398124592(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80200939

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124592
dbSNP (classic)	rs398124592
ClinGen	rs398124592
ebi	rs398124592
HLI	rs398124592
Exac	rs398124592
Gnomad	rs398124592
Varsome	rs398124592
LitVar	rs398124592
Map	rs398124592
PheGenI	rs398124592
Biobank	rs398124592
1000 genomes	rs398124592
hgdp	rs398124592
ensembl	rs398124592
geneview	rs398124592
scholar	rs398124592
google	rs398124592
pharmgkb	rs398124592
gwascentral	rs398124592
openSNP	rs398124592
23andMe	rs398124592
SNPshot	rs398124592
SNPdbe	rs398124592
MSV3d	rs398124592
GWAS Ctlg	rs398124592

Max Magnitude

0

ClinVar
Risk	rs398124592(T;T)
Alt	rs398124592(T;T)
Reference	Rs398124592(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.80910656G>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000082766.3, RCV000180017.1,