rs398123508

Orientation

plus

Stabilized

plus

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

Make rs398123508(C;C)

Make rs398123508(C;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41422370

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123508
dbSNP (classic)	rs398123508
ClinGen	rs398123508
ebi	rs398123508
HLI	rs398123508
Exac	rs398123508
Gnomad	rs398123508
Varsome	rs398123508
LitVar	rs398123508
Map	rs398123508
PheGenI	rs398123508
Biobank	rs398123508
1000 genomes	rs398123508
hgdp	rs398123508
ensembl	rs398123508
geneview	rs398123508
scholar	rs398123508
google	rs398123508
pharmgkb	rs398123508
gwascentral	rs398123508
openSNP	rs398123508
23andMe	rs398123508
SNPshot	rs398123508
SNPdbe	rs398123508
MSV3d	rs398123508
GWAS Ctlg	rs398123508

Max Magnitude

0

ClinVar
Risk	rs398123508(C;C)
Alt	rs398123508(C;C)
Reference	Rs398123508(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.41928275G>C
CLNSRC	HGMD
CLNACC	RCV000079257.4, RCV000179337.1,