rs398123490

Orientation

plus

Stabilized

plus

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

Make rs398123490(A;A)

Make rs398123490(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41424504

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123490
dbSNP (classic)	rs398123490
ClinGen	rs398123490
ebi	rs398123490
HLI	rs398123490
Exac	rs398123490
Gnomad	rs398123490
Varsome	rs398123490
LitVar	rs398123490
Map	rs398123490
PheGenI	rs398123490
Biobank	rs398123490
1000 genomes	rs398123490
hgdp	rs398123490
ensembl	rs398123490
geneview	rs398123490
scholar	rs398123490
google	rs398123490
pharmgkb	rs398123490
gwascentral	rs398123490
openSNP	rs398123490
23andMe	rs398123490
SNPshot	rs398123490
SNPdbe	rs398123490
MSV3d	rs398123490
GWAS Ctlg	rs398123490

Max Magnitude

0

ClinVar
Risk	rs398123490(A;A)
Alt	rs398123490(A;A)
Reference	Rs398123490(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.41930409G>A
CLNSRC	HGMD
CLNACC	RCV000079225.3, RCV000180522.2,