rs794727847

Orientation

plus

Stabilized

plus

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

Make rs794727847(-;-)

Make rs794727847(-;AGGCCCCG)

Make rs794727847(AGGCCCCG;AGGCCCCG)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

41422636

Gene

BCKDHA

is a	snp
is	mentioned by
dbSNP	rs794727847
dbSNP (classic)	rs794727847
ClinGen	rs794727847
ebi	rs794727847
HLI	rs794727847
Exac	rs794727847
Gnomad	rs794727847
Varsome	rs794727847
LitVar	rs794727847
Map	rs794727847
PheGenI	rs794727847
Biobank	rs794727847
1000 genomes	rs794727847
hgdp	rs794727847
ensembl	rs794727847
geneview	rs794727847
scholar	rs794727847
google	rs794727847
pharmgkb	rs794727847
gwascentral	rs794727847
openSNP	rs794727847
23andMe	rs794727847
SNPshot	rs794727847
SNPdbe	rs794727847
MSV3d	rs794727847
GWAS Ctlg	rs794727847

Max Magnitude

0

ClinVar
Risk	rs794727847(-;-)
Alt	rs794727847(-;-)
Reference	Rs794727847(CGAGGCCC;CGAGGCCC)
Significance	Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHA
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000019.9:g.41928541_41928548delAGGCCCCG
CLNSRC
CLNACC	RCV000179782.1,