rs148905512

Orientation

plus

Stabilized

plus

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

Make rs148905512(C;T)

Make rs148905512(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

6

Position

80168951

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs148905512
dbSNP (classic)	rs148905512
ClinGen	rs148905512
ebi	rs148905512
HLI	rs148905512
Exac	rs148905512
Gnomad	rs148905512
Varsome	rs148905512
LitVar	rs148905512
Map	rs148905512
PheGenI	rs148905512
Biobank	rs148905512
1000 genomes	rs148905512
hgdp	rs148905512
ensembl	rs148905512
geneview	rs148905512
scholar	rs148905512
google	rs148905512
pharmgkb	rs148905512
gwascentral	rs148905512
openSNP	rs148905512
23andMe	rs148905512
SNPshot	rs148905512
SNPdbe	rs148905512
MSV3d	rs148905512
GWAS Ctlg	rs148905512

Max Magnitude

0

ClinVar
Risk	rs148905512(T;T)
Alt	rs148905512(T;T)
Reference	Rs148905512(C;C)
Significance	Pathogenic
Disease	Maple syrup urine disease
Variation	info
Gene	BCKDHB
CLNDBN	Maple syrup urine disease
Reversed	0
HGVS	NC_000006.11:g.80878668C>T
CLNSRC
CLNACC	RCV000209747.1,