rs398123504

Orientation

plus

Stabilized

plus

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

Make rs398123504(-;T)

Make rs398123504(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41422257

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs398123504
dbSNP (classic)	rs398123504
ClinGen	rs398123504
ebi	rs398123504
HLI	rs398123504
Exac	rs398123504
Gnomad	rs398123504
Varsome	rs398123504
LitVar	rs398123504
Map	rs398123504
PheGenI	rs398123504
Biobank	rs398123504
1000 genomes	rs398123504
hgdp	rs398123504
ensembl	rs398123504
geneview	rs398123504
scholar	rs398123504
google	rs398123504
pharmgkb	rs398123504
gwascentral	rs398123504
openSNP	rs398123504
23andMe	rs398123504
SNPshot	rs398123504
SNPdbe	rs398123504
MSV3d	rs398123504
GWAS Ctlg	rs398123504

Max Magnitude

0

ClinVar
Risk	rs398123504(T;T)
Alt	rs398123504(T;T)
Reference	Rs398123504(-;-)
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.41928163dupT
CLNSRC	ClinVar
CLNACC	RCV000079252.3, RCV000179336.1,