rs398123497

Orientation

plus

Stabilized

plus

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

Make rs398123497(C;T)

Make rs398123497(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41410825

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123497
dbSNP (classic)	rs398123497
ClinGen	rs398123497
ebi	rs398123497
HLI	rs398123497
Exac	rs398123497
Gnomad	rs398123497
Varsome	rs398123497
LitVar	rs398123497
Map	rs398123497
PheGenI	rs398123497
Biobank	rs398123497
1000 genomes	rs398123497
hgdp	rs398123497
ensembl	rs398123497
geneview	rs398123497
scholar	rs398123497
google	rs398123497
pharmgkb	rs398123497
gwascentral	rs398123497
openSNP	rs398123497
23andMe	rs398123497
SNPshot	rs398123497
SNPdbe	rs398123497
MSV3d	rs398123497
GWAS Ctlg	rs398123497

Max Magnitude

0

ClinVar
Risk	rs398123497(T;T)
Alt	rs398123497(T;T)
Reference	Rs398123497(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.41916730C>T
CLNSRC	HGMD
CLNACC	RCV000079234.3, RCV000175638.1,