rs137852872

Orientation

plus

Stabilized

plus

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

Make rs137852872(G;G)

Make rs137852872(G;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41424496

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs137852872
dbSNP (classic)	rs137852872
ClinGen	rs137852872
ebi	rs137852872
HLI	rs137852872
Exac	rs137852872
Gnomad	rs137852872
Varsome	rs137852872
LitVar	rs137852872
Map	rs137852872
PheGenI	rs137852872
Biobank	rs137852872
1000 genomes	rs137852872
hgdp	rs137852872
ensembl	rs137852872
geneview	rs137852872
scholar	rs137852872
google	rs137852872
pharmgkb	rs137852872
gwascentral	rs137852872
openSNP	rs137852872
23andMe	rs137852872
SNPshot	rs137852872
SNPdbe	rs137852872
MSV3d	rs137852872
GWAS Ctlg	rs137852872

Max Magnitude

0

OMIM	608348
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137852872(G;G)
Alt	rs137852872(G;G)
Reference	Rs137852872(T;T)
Significance	Pathogenic
Disease	MAPLE SYRUP URINE DISEASE Maple syrup urine disease type 1A
Variation	info
Gene	BCKDHA
CLNDBN	MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA Maple syrup urine disease type 1A
Reversed	0
HGVS	NC_000019.9:g.41930401T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002476.3, RCV000002477.3,