rs398123491

Orientation

plus

Stabilized

plus

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

Make rs398123491(A;A)

Make rs398123491(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41424572

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123491
dbSNP (classic)	rs398123491
ClinGen	rs398123491
ebi	rs398123491
HLI	rs398123491
Exac	rs398123491
Gnomad	rs398123491
Varsome	rs398123491
LitVar	rs398123491
Map	rs398123491
PheGenI	rs398123491
Biobank	rs398123491
1000 genomes	rs398123491
hgdp	rs398123491
ensembl	rs398123491
geneview	rs398123491
scholar	rs398123491
google	rs398123491
pharmgkb	rs398123491
gwascentral	rs398123491
openSNP	rs398123491
23andMe	rs398123491
SNPshot	rs398123491
SNPdbe	rs398123491
MSV3d	rs398123491
GWAS Ctlg	rs398123491

Max Magnitude

0

ClinVar
Risk	rs398123491(A;A) rs398123491(T;T)
Alt	rs398123491(A;A) rs398123491(T;T)
Reference	Rs398123491(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.41930477C>A
CLNSRC	ClinVar Emory University
CLNACC	RCV000079227.3, RCV000180524.1,