rs398123510

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GT;GT)	0	common in clinvar
(I;I)	0	common genotype
(TG;TG)	0	common in clinvar

Make rs398123510(-;-)

Make rs398123510(-;GT)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41422684

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123510
dbSNP (classic)	rs398123510
ClinGen	rs398123510
ebi	rs398123510
HLI	rs398123510
Exac	rs398123510
Gnomad	rs398123510
Varsome	rs398123510
LitVar	rs398123510
Map	rs398123510
PheGenI	rs398123510
Biobank	rs398123510
1000 genomes	rs398123510
hgdp	rs398123510
ensembl	rs398123510
geneview	rs398123510
scholar	rs398123510
google	rs398123510
pharmgkb	rs398123510
gwascentral	rs398123510
openSNP	rs398123510
23andMe	rs398123510
SNPshot	rs398123510
SNPdbe	rs398123510
MSV3d	rs398123510
GWAS Ctlg	rs398123510

Max Magnitude

0

ClinVar
Risk	rs398123510(-;-)
Alt	rs398123510(-;-)
Reference	Rs398123510(TG;TG)
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.41928589_41928590delGT
CLNSRC	ClinVar
CLNACC	RCV000079261.3, RCV000179781.1,