rs398123486

Orientation

plus

Stabilized

plus

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

Make rs398123486(A;A)

Make rs398123486(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

41423039

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123486
dbSNP (classic)	rs398123486
ClinGen	rs398123486
ebi	rs398123486
HLI	rs398123486
Exac	rs398123486
Gnomad	rs398123486
Varsome	rs398123486
LitVar	rs398123486
Map	rs398123486
PheGenI	rs398123486
Biobank	rs398123486
1000 genomes	rs398123486
hgdp	rs398123486
ensembl	rs398123486
geneview	rs398123486
scholar	rs398123486
google	rs398123486
pharmgkb	rs398123486
gwascentral	rs398123486
openSNP	rs398123486
23andMe	rs398123486
SNPshot	rs398123486
SNPdbe	rs398123486
MSV3d	rs398123486
GWAS Ctlg	rs398123486

Max Magnitude

0

ClinVar
Risk	rs398123486(A;A)
Alt	rs398123486(A;A)
Reference	Rs398123486(G;G)
Significance	Probable-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.41928944G>A
CLNSRC	HGMD
CLNACC	RCV000079217.3, RCV000180182.1,