rs398123503

Orientation

plus

Stabilized

plus

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

Make rs398123503(C;T)

Make rs398123503(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41419282

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123503
dbSNP (classic)	rs398123503
ClinGen	rs398123503
ebi	rs398123503
HLI	rs398123503
Exac	rs398123503
Gnomad	rs398123503
Varsome	rs398123503
LitVar	rs398123503
Map	rs398123503
PheGenI	rs398123503
Biobank	rs398123503
1000 genomes	rs398123503
hgdp	rs398123503
ensembl	rs398123503
geneview	rs398123503
scholar	rs398123503
google	rs398123503
pharmgkb	rs398123503
gwascentral	rs398123503
openSNP	rs398123503
23andMe	rs398123503
SNPshot	rs398123503
SNPdbe	rs398123503
MSV3d	rs398123503
GWAS Ctlg	rs398123503

Max Magnitude

0

ClinVar
Risk	rs398123503(T;T)
Alt	rs398123503(T;T)
Reference	Rs398123503(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.41925187C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000079247.3, RCV000178794.1,