rs869312127

Orientation

plus

Stabilized

plus

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

Make rs869312127(A;G)

Make rs869312127(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

80127545

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs869312127
dbSNP (classic)	rs869312127
ClinGen	rs869312127
ebi	rs869312127
HLI	rs869312127
Exac	rs869312127
Gnomad	rs869312127
Varsome	rs869312127
LitVar	rs869312127
Map	rs869312127
PheGenI	rs869312127
Biobank	rs869312127
1000 genomes	rs869312127
hgdp	rs869312127
ensembl	rs869312127
geneview	rs869312127
scholar	rs869312127
google	rs869312127
pharmgkb	rs869312127
gwascentral	rs869312127
openSNP	rs869312127
23andMe	rs869312127
SNPshot	rs869312127
SNPdbe	rs869312127
MSV3d	rs869312127
GWAS Ctlg	rs869312127

Max Magnitude

0

ClinVar
Risk	rs869312127(G;G)
Alt	rs869312127(G;G)
Reference	Rs869312127(A;A)
Significance	Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.80837262A>G
CLNSRC
CLNACC	RCV000209460.1,