rs398124575

Orientation

plus

Stabilized

plus

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

Make rs398124575(C;T)

Make rs398124575(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

80167699

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs398124575
dbSNP (classic)	rs398124575
ClinGen	rs398124575
ebi	rs398124575
HLI	rs398124575
Exac	rs398124575
Gnomad	rs398124575
Varsome	rs398124575
LitVar	rs398124575
Map	rs398124575
PheGenI	rs398124575
Biobank	rs398124575
1000 genomes	rs398124575
hgdp	rs398124575
ensembl	rs398124575
geneview	rs398124575
scholar	rs398124575
google	rs398124575
pharmgkb	rs398124575
gwascentral	rs398124575
openSNP	rs398124575
23andMe	rs398124575
SNPshot	rs398124575
SNPdbe	rs398124575
MSV3d	rs398124575
GWAS Ctlg	rs398124575

Max Magnitude

0

ClinVar
Risk	rs398124575(A;A) rs398124575(T;T)
Alt	rs398124575(A;A) rs398124575(T;T)
Reference	Rs398124575(C;C)
Significance	Probable-Pathogenic
Disease	Maple syrup urine disease not specified
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease not specified
Reversed	0
HGVS	NC_000006.11:g.80877416C>A; NC_000006.11:g.80877416C>T
CLNSRC
CLNACC	RCV000449606.1, RCV000082740.4,