rs398124593

Orientation

plus

Stabilized

plus

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

Make rs398124593(C;C)

Make rs398124593(C;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80200943

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124593
dbSNP (classic)	rs398124593
ClinGen	rs398124593
ebi	rs398124593
HLI	rs398124593
Exac	rs398124593
Gnomad	rs398124593
Varsome	rs398124593
LitVar	rs398124593
Map	rs398124593
PheGenI	rs398124593
Biobank	rs398124593
1000 genomes	rs398124593
hgdp	rs398124593
ensembl	rs398124593
geneview	rs398124593
scholar	rs398124593
google	rs398124593
pharmgkb	rs398124593
gwascentral	rs398124593
openSNP	rs398124593
23andMe	rs398124593
SNPshot	rs398124593
SNPdbe	rs398124593
MSV3d	rs398124593
GWAS Ctlg	rs398124593

Max Magnitude

0

ClinVar
Risk	rs398124593(A;A) rs398124593(C;C)
Alt	rs398124593(A;A) rs398124593(C;C)
Reference	Rs398124593(T;T)
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.80910660T>C
CLNSRC	HGMD
CLNACC	RCV000082767.3, RCV000180018.1,