rs398123499

Orientation

plus

Stabilized

plus

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

Make rs398123499(C;T)

Make rs398123499(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41411004

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123499
dbSNP (classic)	rs398123499
ClinGen	rs398123499
ebi	rs398123499
HLI	rs398123499
Exac	rs398123499
Gnomad	rs398123499
Varsome	rs398123499
LitVar	rs398123499
Map	rs398123499
PheGenI	rs398123499
Biobank	rs398123499
1000 genomes	rs398123499
hgdp	rs398123499
ensembl	rs398123499
geneview	rs398123499
scholar	rs398123499
google	rs398123499
pharmgkb	rs398123499
gwascentral	rs398123499
openSNP	rs398123499
23andMe	rs398123499
SNPshot	rs398123499
SNPdbe	rs398123499
MSV3d	rs398123499
GWAS Ctlg	rs398123499

Max Magnitude

0

ClinVar
Risk	rs398123499(T;T)
Alt	rs398123499(T;T)
Reference	Rs398123499(C;C)
Significance	Probable-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.41916909C>T
CLNSRC	ClinVar Emory University
CLNACC	RCV000079238.3, RCV000177087.1,