rs137852874

Orientation

plus

Stabilized

plus

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

Make rs137852874(A;A)

Make rs137852874(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41422262

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs137852874
dbSNP (classic)	rs137852874
ClinGen	rs137852874
ebi	rs137852874
HLI	rs137852874
Exac	rs137852874
Gnomad	rs137852874
Varsome	rs137852874
LitVar	rs137852874
Map	rs137852874
PheGenI	rs137852874
Biobank	rs137852874
1000 genomes	rs137852874
hgdp	rs137852874
ensembl	rs137852874
geneview	rs137852874
scholar	rs137852874
google	rs137852874
pharmgkb	rs137852874
gwascentral	rs137852874
openSNP	rs137852874
23andMe	rs137852874
SNPshot	rs137852874
SNPdbe	rs137852874
MSV3d	rs137852874
GWAS Ctlg	rs137852874

Max Magnitude

0

OMIM	608348
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852874(A;A)
Alt	rs137852874(A;A)
Reference	Rs137852874(G;G)
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.41928167G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002479.3,