rs121965004

Orientation

plus

Stabilized

plus

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

Make rs121965004(C;T)

Make rs121965004(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

80169013

Gene

BCKDHB

is a	snp
is	mentioned by
dbSNP	rs121965004
dbSNP (classic)	rs121965004
ClinGen	rs121965004
ebi	rs121965004
HLI	rs121965004
Exac	rs121965004
Gnomad	rs121965004
Varsome	rs121965004
LitVar	rs121965004
Map	rs121965004
PheGenI	rs121965004
Biobank	rs121965004
1000 genomes	rs121965004
hgdp	rs121965004
ensembl	rs121965004
geneview	rs121965004
scholar	rs121965004
google	rs121965004
pharmgkb	rs121965004
gwascentral	rs121965004
openSNP	rs121965004
23andMe	rs121965004
SNPshot	rs121965004
SNPdbe	rs121965004
MSV3d	rs121965004
GWAS Ctlg	rs121965004

Max Magnitude

0

OMIM	248611
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121965004(T;T)
Alt	rs121965004(T;T)
Reference	Rs121965004(C;C)
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.80878730C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012716.25,