rs797045411

Orientation

plus

Stabilized

plus

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

Make rs797045411(-;-)

Make rs797045411(-;A)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

80343744

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs797045411
dbSNP (classic)	rs797045411
ClinGen	rs797045411
ebi	rs797045411
HLI	rs797045411
Exac	rs797045411
Gnomad	rs797045411
Varsome	rs797045411
LitVar	rs797045411
Map	rs797045411
PheGenI	rs797045411
Biobank	rs797045411
1000 genomes	rs797045411
hgdp	rs797045411
ensembl	rs797045411
geneview	rs797045411
scholar	rs797045411
google	rs797045411
pharmgkb	rs797045411
gwascentral	rs797045411
openSNP	rs797045411
23andMe	rs797045411
SNPshot	rs797045411
SNPdbe	rs797045411
MSV3d	rs797045411
GWAS Ctlg	rs797045411

Max Magnitude

0

ClinVar
Risk	rs797045411(-;-)
Alt	rs797045411(-;-)
Reference	Rs797045411(A;A)
Significance	Probable-Pathogenic
Disease	Maple syrup urine disease type 1B
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease type 1B
Reversed	0
HGVS	NC_000006.11:g.81053461delA
CLNSRC
CLNACC	RCV000193073.1,