rs398123512

Orientation

plus

Stabilized

plus

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

Make rs398123512(-;-)

Make rs398123512(-;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41422692

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123512
dbSNP (classic)	rs398123512
ClinGen	rs398123512
ebi	rs398123512
HLI	rs398123512
Exac	rs398123512
Gnomad	rs398123512
Varsome	rs398123512
LitVar	rs398123512
Map	rs398123512
PheGenI	rs398123512
Biobank	rs398123512
1000 genomes	rs398123512
hgdp	rs398123512
ensembl	rs398123512
geneview	rs398123512
scholar	rs398123512
google	rs398123512
pharmgkb	rs398123512
gwascentral	rs398123512
openSNP	rs398123512
23andMe	rs398123512
SNPshot	rs398123512
SNPdbe	rs398123512
MSV3d	rs398123512
GWAS Ctlg	rs398123512

Max Magnitude

0

ClinVar
Risk	rs398123512(-;-)
Alt	rs398123512(-;-)
Reference	Rs398123512(T;T)
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.41928597delT
CLNSRC	ClinVar
CLNACC	RCV000079263.3, RCV000179778.1,