rs398123496

Orientation

plus

Stabilized

plus

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

Make rs398123496(A;A)

Make rs398123496(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41410817

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123496
dbSNP (classic)	rs398123496
ClinGen	rs398123496
ebi	rs398123496
HLI	rs398123496
Exac	rs398123496
Gnomad	rs398123496
Varsome	rs398123496
LitVar	rs398123496
Map	rs398123496
PheGenI	rs398123496
Biobank	rs398123496
1000 genomes	rs398123496
hgdp	rs398123496
ensembl	rs398123496
geneview	rs398123496
scholar	rs398123496
google	rs398123496
pharmgkb	rs398123496
gwascentral	rs398123496
openSNP	rs398123496
23andMe	rs398123496
SNPshot	rs398123496
SNPdbe	rs398123496
MSV3d	rs398123496
GWAS Ctlg	rs398123496

Max Magnitude

0

ClinVar
Risk	rs398123496(A;A)
Alt	rs398123496(A;A)
Reference	Rs398123496(G;G)
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.41916722G>A
CLNSRC	ClinVar
CLNACC	RCV000079233.5, RCV000175639.1,