rs121965005

Orientation

plus

Stabilized

plus

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

Make rs121965005(G;G)

Make rs121965005(G;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80167690

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs121965005
dbSNP (classic)	rs121965005
ClinGen	rs121965005
ebi	rs121965005
HLI	rs121965005
Exac	rs121965005
Gnomad	rs121965005
Varsome	rs121965005
LitVar	rs121965005
Map	rs121965005
PheGenI	rs121965005
Biobank	rs121965005
1000 genomes	rs121965005
hgdp	rs121965005
ensembl	rs121965005
geneview	rs121965005
scholar	rs121965005
google	rs121965005
pharmgkb	rs121965005
gwascentral	rs121965005
openSNP	rs121965005
23andMe	rs121965005
SNPshot	rs121965005
SNPdbe	rs121965005
MSV3d	rs121965005
GWAS Ctlg	rs121965005

Max Magnitude

0

OMIM	248611
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121965005(G;G)
Alt	rs121965005(G;G)
Reference	Rs121965005(T;T)
Significance	Pathogenic
Disease	MAPLE SYRUP URINE DISEASE
Variation	info
Gene	BCKDHB
CLNDBN	MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB
Reversed	0
HGVS	NC_000006.11:g.80877407T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012717.23,