rs398123494

Orientation

plus

Stabilized

plus

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

Make rs398123494(-;-)

Make rs398123494(-;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41397841

Gene	BCKDHA, EXOSC5

is a	snp
is	mentioned by
dbSNP	rs398123494
dbSNP (classic)	rs398123494
ClinGen	rs398123494
ebi	rs398123494
HLI	rs398123494
Exac	rs398123494
Gnomad	rs398123494
Varsome	rs398123494
LitVar	rs398123494
Map	rs398123494
PheGenI	rs398123494
Biobank	rs398123494
1000 genomes	rs398123494
hgdp	rs398123494
ensembl	rs398123494
geneview	rs398123494
scholar	rs398123494
google	rs398123494
pharmgkb	rs398123494
gwascentral	rs398123494
openSNP	rs398123494
23andMe	rs398123494
SNPshot	rs398123494
SNPdbe	rs398123494
MSV3d	rs398123494
GWAS Ctlg	rs398123494

Max Magnitude

0

ClinVar
Risk	rs398123494(-;-)
Alt	rs398123494(-;-)
Reference	Rs398123494(T;T)
Significance	Pathogenic
Disease	not provided Maple syrup urine disease
Variation	info
Gene	BCKDHA EXOSC5
CLNDBN	not provided Maple syrup urine disease
Reversed	0
HGVS	NC_000019.9:g.41903746delT
CLNSRC	ClinVar
CLNACC	RCV000079231.3, RCV000173164.1,