rs137852873

Orientation

plus

Stabilized

plus

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

Make rs137852873(C;T)

Make rs137852873(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

41422310

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs137852873
dbSNP (classic)	rs137852873
ClinGen	rs137852873
ebi	rs137852873
HLI	rs137852873
Exac	rs137852873
Gnomad	rs137852873
Varsome	rs137852873
LitVar	rs137852873
Map	rs137852873
PheGenI	rs137852873
Biobank	rs137852873
1000 genomes	rs137852873
hgdp	rs137852873
ensembl	rs137852873
geneview	rs137852873
scholar	rs137852873
google	rs137852873
pharmgkb	rs137852873
gwascentral	rs137852873
openSNP	rs137852873
23andMe	rs137852873
SNPshot	rs137852873
SNPdbe	rs137852873
MSV3d	rs137852873
GWAS Ctlg	rs137852873

Max Magnitude

0

OMIM	608348
Desc
Variant	0005
Related	also

ClinVar
Risk	rs137852873(T;T)
Alt	rs137852873(T;T)
Reference	Rs137852873(C;C)
Significance	Pathogenic
Disease	Maple syrup urine disease type 1A not provided
Variation	info
Gene	BCKDHA
CLNDBN	Maple syrup urine disease type 1A not provided
Reversed	0
HGVS	NC_000019.9:g.41928215C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002478.3, RCV000393620.1,