rs398123492

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AC;AC)	0	common in clinvar
(CA;CA)	0	common in clinvar

Make rs398123492(-;-)

Make rs398123492(-;AC)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41424580

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123492
dbSNP (classic)	rs398123492
ClinGen	rs398123492
ebi	rs398123492
HLI	rs398123492
Exac	rs398123492
Gnomad	rs398123492
Varsome	rs398123492
LitVar	rs398123492
Map	rs398123492
PheGenI	rs398123492
Biobank	rs398123492
1000 genomes	rs398123492
hgdp	rs398123492
ensembl	rs398123492
geneview	rs398123492
scholar	rs398123492
google	rs398123492
pharmgkb	rs398123492
gwascentral	rs398123492
openSNP	rs398123492
23andMe	rs398123492
SNPshot	rs398123492
SNPdbe	rs398123492
MSV3d	rs398123492
GWAS Ctlg	rs398123492

Max Magnitude

0

ClinVar
Risk	rs398123492(-;-)
Alt	rs398123492(-;-)
Reference	Rs398123492(CA;CA)
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.41930485_41930486delAC
CLNSRC	ClinVar
CLNACC	RCV000079228.3, RCV000180523.1,