rs137852875

Orientation

plus

Stabilized

plus

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

Make rs137852875(C;G)

Make rs137852875(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41422704

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs137852875
dbSNP (classic)	rs137852875
ClinGen	rs137852875
ebi	rs137852875
HLI	rs137852875
Exac	rs137852875
Gnomad	rs137852875
Varsome	rs137852875
LitVar	rs137852875
Map	rs137852875
PheGenI	rs137852875
Biobank	rs137852875
1000 genomes	rs137852875
hgdp	rs137852875
ensembl	rs137852875
geneview	rs137852875
scholar	rs137852875
google	rs137852875
pharmgkb	rs137852875
gwascentral	rs137852875
openSNP	rs137852875
23andMe	rs137852875
SNPshot	rs137852875
SNPdbe	rs137852875
MSV3d	rs137852875
GWAS Ctlg	rs137852875

Max Magnitude

0

OMIM	608348
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852875(G;G)
Alt	rs137852875(G;G)
Reference	Rs137852875(C;C)
Significance	Pathogenic
Disease	Maple syrup urine disease type 1A not provided Maple syrup urine disease
Variation	info
Gene	BCKDHA
CLNDBN	Maple syrup urine disease type 1A not provided Maple syrup urine disease
Reversed	0
HGVS	NC_000019.9:g.41928609C>G
CLNSRC	HGMD OMIM Allelic Variant
CLNACC	RCV000002480.3, RCV000079264.3, RCV000179776.1,