rs137852876

Orientation

plus

Stabilized

plus

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

Make rs137852876(C;G)

Make rs137852876(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41422309

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs137852876
dbSNP (classic)	rs137852876
ClinGen	rs137852876
ebi	rs137852876
HLI	rs137852876
Exac	rs137852876
Gnomad	rs137852876
Varsome	rs137852876
LitVar	rs137852876
Map	rs137852876
PheGenI	rs137852876
Biobank	rs137852876
1000 genomes	rs137852876
hgdp	rs137852876
ensembl	rs137852876
geneview	rs137852876
scholar	rs137852876
google	rs137852876
pharmgkb	rs137852876
gwascentral	rs137852876
openSNP	rs137852876
23andMe	rs137852876
SNPshot	rs137852876
SNPdbe	rs137852876
MSV3d	rs137852876
GWAS Ctlg	rs137852876

Max Magnitude

0

OMIM	608348
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852876(G;G)
Alt	rs137852876(G;G)
Reference	Rs137852876(C;C)
Significance	Pathogenic
Disease	Maple syrup urine disease type 1A
Variation	info
Gene	BCKDHA
CLNDBN	Maple syrup urine disease type 1A
Reversed	0
HGVS	NC_000019.9:g.41928214C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002481.3,