rs398123493

Orientation

plus

Stabilized

plus

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

Make rs398123493(A;A)

Make rs398123493(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41424584

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123493
dbSNP (classic)	rs398123493
ClinGen	rs398123493
ebi	rs398123493
HLI	rs398123493
Exac	rs398123493
Gnomad	rs398123493
Varsome	rs398123493
LitVar	rs398123493
Map	rs398123493
PheGenI	rs398123493
Biobank	rs398123493
1000 genomes	rs398123493
hgdp	rs398123493
ensembl	rs398123493
geneview	rs398123493
scholar	rs398123493
google	rs398123493
pharmgkb	rs398123493
gwascentral	rs398123493
openSNP	rs398123493
23andMe	rs398123493
SNPshot	rs398123493
SNPdbe	rs398123493
MSV3d	rs398123493
GWAS Ctlg	rs398123493

Max Magnitude

0

ClinVar
Risk	rs398123493(A;A)
Alt	rs398123493(A;A)
Reference	Rs398123493(C;C)
Significance	Pathogenic
Disease	not provided Maple syrup urine disease
Variation	info
Gene	BCKDHA
CLNDBN	not provided Maple syrup urine disease
Reversed	0
HGVS	NC_000019.9:g.41930489C>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000079230.3, RCV000180521.1,