rs398123509

Orientation

plus

Stabilized

plus

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

Make rs398123509(A;C)

Make rs398123509(C;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41422680

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123509
dbSNP (classic)	rs398123509
ClinGen	rs398123509
ebi	rs398123509
HLI	rs398123509
Exac	rs398123509
Gnomad	rs398123509
Varsome	rs398123509
LitVar	rs398123509
Map	rs398123509
PheGenI	rs398123509
Biobank	rs398123509
1000 genomes	rs398123509
hgdp	rs398123509
ensembl	rs398123509
geneview	rs398123509
scholar	rs398123509
google	rs398123509
pharmgkb	rs398123509
gwascentral	rs398123509
openSNP	rs398123509
23andMe	rs398123509
SNPshot	rs398123509
SNPdbe	rs398123509
MSV3d	rs398123509
GWAS Ctlg	rs398123509

Max Magnitude

0

ClinVar
Risk	rs398123509(C;C)
Alt	rs398123509(C;C)
Reference	Rs398123509(A;A)
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.41928585A>C
CLNSRC	HGMD
CLNACC	RCV000079260.3, RCV000179780.1,