rs376456598

Orientation

plus

Stabilized

plus

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

Make rs376456598(A;A)

Make rs376456598(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

41410665

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs376456598
dbSNP (classic)	rs376456598
ClinGen	rs376456598
ebi	rs376456598
HLI	rs376456598
Exac	rs376456598
Gnomad	rs376456598
Varsome	rs376456598
LitVar	rs376456598
Map	rs376456598
PheGenI	rs376456598
Biobank	rs376456598
1000 genomes	rs376456598
hgdp	rs376456598
ensembl	rs376456598
geneview	rs376456598
scholar	rs376456598
google	rs376456598
pharmgkb	rs376456598
gwascentral	rs376456598
openSNP	rs376456598
23andMe	rs376456598
SNPshot	rs376456598
SNPdbe	rs376456598
MSV3d	rs376456598
GWAS Ctlg	rs376456598

Max Magnitude

0

ClinVar
Risk	rs376456598(A;A)
Alt	rs376456598(A;A)
Reference	Rs376456598(C;C)
Significance	Probable-Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHA
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000019.9:g.41916570C>A
CLNSRC
CLNACC	RCV000409408.1,